ClinVar Miner

List of variants reported as uncertain significance for cataract 14 multiple types by Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser) rs140332366 0.00001
NM_021954.4(GJA3):c.1189dup (p.Ala397fs)
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala)
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp)
NM_021954.4(GJA3):c.199G>C (p.Asp67His)
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly)
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly)
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe)
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg)
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu)
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys) rs1958823641
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) rs1555339477
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln) rs1114167308
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) rs2141138001
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) rs140332366
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser)
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser)
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) rs2141137977
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) rs397514704
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp)
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539
NM_021954.4(GJA3):c.82G>T (p.Val28Leu)
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn)

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