List of variants in gene GJA1 reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)	rs962041031	0.00001
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
NM_000165.5(GJA1):c.131C>T (p.Ala44Val)	rs794729675
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)	rs1773899790
NM_000165.5(GJA1):c.179G>C (p.Gly60Ala)
NM_000165.5(GJA1):c.196T>C (p.Tyr66His)	rs2114283106
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)	rs267606845
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
NM_000165.5(GJA1):c.235G>A (p.Val79Ile)
NM_000165.5(GJA1):c.246C>G (p.Ile82Met)	rs1773901440
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp)	rs1554201019
NM_000165.5(GJA1):c.416T>A (p.Ile139Asn)	rs2114283459
NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del)	rs2114283487
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala)	rs1773907180
NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr)	rs2114283819
NM_000165.5(GJA1):c.690T>G (p.Tyr230Ter)

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