Table 3.

Number of variants annotated by ClinVar or gnomAD, separated by their membrane protein category: single-pass, multi-pass, lipid-anchored, integral

Membrane protein category	All		Single-pass		Multi-pass		Lipid-anchored		Integral
Variant counts for	All	Transmembrane	All	Transmembrane	All	Transmembrane	All	Transmembrane	All	Transmembrane
Total	1,867,856	258,379	861,305	30,480	824,532	218,193	127,370	0	54,649	9706
Benign	11,063	961	4960	138	4794	744	817	0	492	79
Benign $\cap$ gnomAD	10,260	908	4634	132	4455	699	690	0	481	77
Pathogenic	8026	1863	2328	77	4741	1719	544	0	413	67
Pathogenic $\cap$ gnomAD	2360	454	694	20	1377	412	144	0	145	22
VUS (ClinVar)	64,584	6814	25,707	693	29,677	5784	5311	0	3889	337
VUS $\cap$ gnomAD	41,511	4038	17,128	459	19,307	3371	2589	0	2487	208
Only gnomAD	1,784,183	248,741	828,310	29,572	785,320	209,946	120,698	0	49,855	9223
Protein count	5796		2330		2762		561		143