ClinVar Miner

List of variants in gene GJA5 reported as likely benign for atrial standstill 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_181703.4(GJA5):c.995G>A (p.Arg332His) rs116551187 0.00037
NM_181703.4(GJA5):c.111G>A (p.Leu37=) rs138362351 0.00031
NM_181703.4(GJA5):c.13A>G (p.Ser5Gly) rs144069395 0.00025
NM_181703.4(GJA5):c.348G>A (p.Glu116=) rs150168016 0.00019
NM_181703.4(GJA5):c.973A>C (p.Asn325His) rs782592443 0.00011
NM_181703.4(GJA5):c.864C>T (p.Ala288=) rs1384966203 0.00003
NM_181703.4(GJA5):c.342C>G (p.Ala114=) rs886045251 0.00002
NM_181703.4(GJA5):c.378G>A (p.Pro126=) rs112980895 0.00002
NM_181703.4(GJA5):c.867C>T (p.Ser289=) rs782795886 0.00002
NM_181703.4(GJA5):c.1065C>T (p.Asp355=) rs201657244 0.00001
NM_181703.4(GJA5):c.147G>A (p.Gln49=) rs1487739192 0.00001
NM_181703.4(GJA5):c.258C>T (p.Ser86=) rs782415947 0.00001
NM_181703.4(GJA5):c.516C>T (p.Tyr172=) rs369888327 0.00001
NM_181703.4(GJA5):c.1023G>A (p.Lys341=) rs145008952
NM_181703.4(GJA5):c.105C>T (p.Leu35=)
NM_181703.4(GJA5):c.1071A>T (p.Ser357=) rs1553226734
NM_181703.4(GJA5):c.117A>G (p.Thr39=) rs2148959468
NM_181703.4(GJA5):c.123T>A (p.Ala41=) rs2148959454
NM_181703.4(GJA5):c.138G>A (p.Gly46=) rs984101534
NM_181703.4(GJA5):c.138G>C (p.Gly46=)
NM_181703.4(GJA5):c.213C>T (p.Pro71=)
NM_181703.4(GJA5):c.255C>A (p.Val85=)
NM_181703.4(GJA5):c.261G>A (p.Thr87=)
NM_181703.4(GJA5):c.268C>T (p.Leu90=)
NM_181703.4(GJA5):c.297T>G (p.Thr99=) rs146738543
NM_181703.4(GJA5):c.30C>T (p.Phe10=)
NM_181703.4(GJA5):c.327G>A (p.Arg109=) rs143695986
NM_181703.4(GJA5):c.351C>T (p.Val117=)
NM_181703.4(GJA5):c.381G>A (p.Val127=)
NM_181703.4(GJA5):c.399G>T (p.Leu133=)
NM_181703.4(GJA5):c.414A>G (p.Glu138=)
NM_181703.4(GJA5):c.432C>A (p.Ala144=)
NM_181703.4(GJA5):c.435C>T (p.Leu145=)
NM_181703.4(GJA5):c.438G>A (p.Gln146=) rs1553226989
NM_181703.4(GJA5):c.445C>T (p.Leu149=)
NM_181703.4(GJA5):c.447G>C (p.Leu149=) rs782002899
NM_181703.4(GJA5):c.450C>T (p.Leu150=)
NM_181703.4(GJA5):c.510C>A (p.Gly170=)
NM_181703.4(GJA5):c.513G>A (p.Gln171=) rs1571066735
NM_181703.4(GJA5):c.525C>T (p.Tyr175=)
NM_181703.4(GJA5):c.537G>C (p.Leu179=) rs2148959118
NM_181703.4(GJA5):c.543C>T (p.Thr181=) rs1553226953
NM_181703.4(GJA5):c.544C>T (p.Leu182=) rs1553226951
NM_181703.4(GJA5):c.559A>C (p.Arg187=)
NM_181703.4(GJA5):c.57C>G (p.Thr19=)
NM_181703.4(GJA5):c.81T>C (p.Thr27=)
NM_181703.4(GJA5):c.870A>G (p.Gln290=)
NM_181703.4(GJA5):c.891C>T (p.Val297=)
NM_181703.4(GJA5):c.903A>G (p.Val301=) rs2148958793
NM_181703.4(GJA5):c.945T>A (p.Val315=) rs2148958748
NM_181703.4(GJA5):c.948T>A (p.Arg316=)
NM_181703.4(GJA5):c.963T>G (p.Pro321=)
NM_181703.4(GJA5):c.978A>C (p.Gly326=)

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