Table 1.

Summary of the Variants Reported in UniProt, ClinVar & VarSome User Entries for a Given Gene (Version: 18_oct_2019)

Coding Impact	Pathogenic	Likely Pathogenic	Uncertain Significance	Likely Benign	Benign	Total
Synonymous	0	0	34	31	15	80
Missense	199	44	93	2	19	357
Nonsense	27	2	1	0	0	30
Frameshift	29	2	0	0	0	31
Inframe Indel	1	3	0	0	0	4
Splice junction loss	1	1	0	0	0	2
Non-coding	10	10	25	46	101	192
Total	267	62	153	79	135	696

Note: This summary is useful in order to obtain some high-level insights into the modes of pathogenicity for that gene, for example whether synonymous variants mostly benign, or whether the majority of frame-shift variants are pathogenic.