List of variants in gene GJC2 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.268C>T (p.Pro90Ser)	rs74315312	0.00001
NM_020435.4(GJC2):c.718C>T (p.Arg240Ter)	rs74315313	0.00001
NM_020435.4(GJC2):c.814T>G (p.Tyr272Asp)	rs74315314	0.00001
NM_020435.3(GJC2):c.-167A>G	rs587776888
NM_020435.3(GJC2):c.-170A>G	rs587777496
NM_020435.4(GJC2):c.108C>G (p.Ile36Met)	rs75469429
NM_020435.4(GJC2):c.143C>T (p.Ser48Leu)	rs267606847
NM_020435.4(GJC2):c.695_696insG (p.Tyr232Ter)	rs796065029
NM_020435.4(GJC2):c.778C>T (p.Arg260Cys)	rs267606846
NM_020435.4(GJC2):c.787G>A (p.Glu263Lys)	rs397514734
NM_020435.4(GJC2):c.857T>C (p.Met286Thr)	rs74315311
NM_020435.4(GJC2):c.914_947del (p.Pro305fs)	rs796065028
NM_020435.4(GJC2):c.989del (p.Pro330fs)	rs796065027

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