ClinVar Miner

List of variants in gene combination GJA5, LOC122128420 reported as uncertain significance for atrial standstill 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) rs148311482 0.00019
NM_181703.4(GJA5):c.592G>A (p.Val198Ile) rs371086800 0.00007
NM_181703.4(GJA5):c.724C>T (p.Arg242Trp) rs782417838 0.00004
NM_181703.4(GJA5):c.787C>T (p.Pro263Ser) rs781852108 0.00002
NM_181703.4(GJA5):c.593T>C (p.Val198Ala) rs782032408 0.00001
NM_181703.4(GJA5):c.725G>T (p.Arg242Leu) rs906244249 0.00001
NM_181703.4(GJA5):c.771dup (p.Val258fs) rs782700948 0.00001
NM_181703.4(GJA5):c.776A>C (p.Gln259Pro) rs782792159 0.00001
NM_181703.4(GJA5):c.790C>A (p.Pro264Thr) rs200371777 0.00001
NM_181703.4(GJA5):c.566C>G (p.Pro189Arg)
NM_181703.4(GJA5):c.578C>T (p.Pro193Leu)
NM_181703.4(GJA5):c.578del (p.Pro193fs)
NM_181703.4(GJA5):c.584A>G (p.Asn195Ser)
NM_181703.4(GJA5):c.590A>G (p.Tyr197Cys)
NM_181703.4(GJA5):c.591C>G (p.Tyr197Ter)
NM_181703.4(GJA5):c.598C>T (p.Arg200Trp)
NM_181703.4(GJA5):c.607G>A (p.Glu203Lys)
NM_181703.4(GJA5):c.610A>G (p.Lys204Glu)
NM_181703.4(GJA5):c.624T>G (p.Ile208Met)
NM_181703.4(GJA5):c.625G>A (p.Val209Ile)
NM_181703.4(GJA5):c.635T>C (p.Leu212Pro)
NM_181703.4(GJA5):c.638C>A (p.Ala213Asp)
NM_181703.4(GJA5):c.646G>A (p.Ala216Thr)
NM_181703.4(GJA5):c.650T>C (p.Leu217Pro)
NM_181703.4(GJA5):c.658C>T (p.Leu220Phe) rs1553226912
NM_181703.4(GJA5):c.665G>C (p.Ser222Thr) rs1553226908
NM_181703.4(GJA5):c.695AGA[1] (p.Lys233del)
NM_181703.4(GJA5):c.695del (p.Lys232fs)
NM_181703.4(GJA5):c.700A>T (p.Ile234Phe) rs2148959007
NM_181703.4(GJA5):c.709C>T (p.Arg237Ter) rs1476854402
NM_181703.4(GJA5):c.714T>G (p.Phe238Leu)
NM_181703.4(GJA5):c.722C>G (p.Pro241Arg)
NM_181703.4(GJA5):c.727C>T (p.Gln243Ter) rs2148958988
NM_181703.4(GJA5):c.730C>A (p.His244Asn)
NM_181703.4(GJA5):c.730C>T (p.His244Tyr)
NM_181703.4(GJA5):c.743G>A (p.Cys248Tyr)
NM_181703.4(GJA5):c.769A>G (p.Ile257Val)
NM_181703.4(GJA5):c.772G>T (p.Val258Phe)
NM_181703.4(GJA5):c.777G>T (p.Gln259His)
NM_181703.4(GJA5):c.777del (p.Ser260fs)
NM_181703.4(GJA5):c.795del (p.Asp266fs)
NM_181703.4(GJA5):c.795dup (p.Asp266fs) rs782537868
NM_181703.4(GJA5):c.810C>A (p.Cys270Ter)
NM_181703.4(GJA5):c.812T>A (p.Leu271Gln)
NM_181703.4(GJA5):c.815A>C (p.Glu272Ala)
NM_181703.4(GJA5):c.816G>T (p.Glu272Asp)
NM_181703.4(GJA5):c.821G>A (p.Gly274Asp)
NM_181703.4(GJA5):c.823C>T (p.Pro275Ser)
NM_181703.4(GJA5):c.824C>G (p.Pro275Arg)
NM_181703.4(GJA5):c.824C>T (p.Pro275Leu)
NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal)
NM_181703.4(GJA5):c.830G>A (p.Gly277Glu)
NM_181703.4(GJA5):c.833A>G (p.Lys278Arg) rs2148958862
NM_181703.4(GJA5):c.834del (p.Lys278fs)
NM_181703.4(GJA5):c.836T>C (p.Phe279Ser)

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