ClinVar Miner

List of variants in gene GJA3 reported as pathogenic for cataract 14 multiple types

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_021954.4(GJA3):c.1137dup (p.Ser380fs) rs1593332981
NM_021954.4(GJA3):c.130G>A (p.Val44Met) rs981126461
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) rs121917823
NM_021954.4(GJA3):c.227G>A (p.Arg76His) rs121917827
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) rs398122937
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu) rs121917825
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr) rs140332366
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) rs140332366
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) rs397514703
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) rs397514704
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539

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