Table 3.

hgvs package parsing and validation results for transcript variants and genomic variants from ClinVar release 2017‐05

	Transcript variants			Genomic variants
	Number	Percent	Example	Number	Percent	Example
Variants not considered
‐ Variants with uncertain positions	696	0.244%	NM_000059.3:c.‐227‐?_425+?del	23,628	7.624%	NC_000002.12:g.(?_17019)_(774946_?)del
‐ Large variants (>1 M, slow performance)	0	0.000%		58	0.019%	NC_000006.11:g.255350_3189972dup
‐ Sequence data not available	50	0.018%	LRG_219t1:c.3261dupC	40	0.013%	NC_000002.10:g.47852014_47873687del
Invalid variants
‐ Syntactic errors	718	0.252%	NM_000059.3:c.410_411ins8	1,275	0.411%	NC_000017.11:g.43045707delTins6
‐ Invalid coordinates	2,724	0.956%	NM_000038.5:c.*2292A>T	0	0.000%
‐ Discordant del/ins length	4	0.001%	NM_000760.3:c.998_1071del174	6	0.002%	NC_000015.9:g.89382103_89382159del56
‐ Wrong reference	1	0.000%	NM_139058.2:c.333_335dupGCC	0	0.000%
Valid variants				284,892	91.931%	NC_000001.11:g.17028712delTinsCC
‐ Intronic variants	48,797	17.122%	NM_000016.5:c.387+32C>G
‐ Exonic variants	232,003	81.407%	NM_000059.3:c.201_202dupGA