ClinVar Miner

List of variants reported as uncertain significance for heart conduction disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala) rs146610448 0.00096
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454 0.00022
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) rs199714857 0.00006
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser) rs746291340 0.00003
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp) rs542777295 0.00001
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys) rs770847446 0.00001
NM_000335.5(SCN5A):c.5896del (p.Ser1966fs)
NM_000722.4(CACNA2D1):c.2207C>G (p.Ala736Gly)
NM_001010874.5(TECRL):c.55C>T (p.Gln19Ter)
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.12340C>G (p.Arg4114Gly)
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu) rs2149359920
NM_001035.3(RYR2):c.13735C>T (p.His4579Tyr) rs794728830
NM_001035.3(RYR2):c.14722C>A (p.His4908Asn)
NM_001035.3(RYR2):c.2747C>T (p.Pro916Leu)
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr) rs1683042825
NM_005070.4(SLC4A3):c.1486G>A (p.Asp496Asn)
NM_005477.3(HCN4):c.3488C>T (p.Pro1163Leu)
NM_006073.4(TRDN):c.1048A>G (p.Lys350Glu)
NM_006073.4(TRDN):c.1187-2A>G rs578024729
NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro)
NM_016203.4(PRKAG2):c.734A>G (p.Lys245Arg)

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