List of variants in gene GJA1 reported as pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)	rs764670582	0.00004
NM_000165.5(GJA1):c.227G>A (p.Arg76His)	rs267606844	0.00003
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)	rs962041031	0.00001
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)	rs1554200992
NM_000165.5(GJA1):c.140A>T (p.Asp47Val)	rs1554200995
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)
NM_000165.5(GJA1):c.306G>C (p.Lys102Asn)	rs1554201011
NM_000165.5(GJA1):c.32T>A (p.Leu11His)
NM_000165.5(GJA1):c.389T>C (p.Ile130Thr)	rs1554201017
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser)	rs1554201018
NM_000165.5(GJA1):c.53C>A (p.Ser18Ter)	rs1773898086
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg)	rs1773898234
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)	rs104893964
NM_000165.5(GJA1):c.97C>T (p.Arg33Ter)	rs121912970

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