ClinVar Miner

List of variants reported as uncertain significance by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) rs104895192 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn) rs200557537 0.00014
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) rs374767079 0.00013
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile) rs199473341 0.00011
NM_000435.3(NOTCH3):c.224G>A (p.Arg75Gln) rs145069047 0.00010
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu) rs748155731 0.00003
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) rs201994938 0.00003
NM_015346.4(ZFYVE26):c.6419G>A (p.Arg2140Gln) rs373855798 0.00003
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe) rs765921870 0.00002
NM_000243.3(MEFV):c.149C>T (p.Pro50Leu) rs144716190 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val) rs769888172 0.00001
NM_000335.5(SCN5A):c.1045G>A (p.Asp349Asn) rs779687673 0.00001
NM_000335.5(SCN5A):c.5995G>T (p.Asp1999Tyr) rs764195092 0.00001
NM_000335.5(SCN5A):c.84G>A (p.Met28Ile) rs1284557438 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro) rs1800078 0.00001
NM_000044.6(AR):c.882G>T (p.Leu294=)
NM_000243.3(MEFV):c.1129C>G (p.Arg377Gly) rs896909303
NM_000243.3(MEFV):c.1252G>A (p.Glu418Lys) rs1958996963
NM_000243.3(MEFV):c.1627G>C (p.Val543Leu) rs1958911016
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp) rs387907570
NM_000243.3(MEFV):c.217G>A (p.Val73Ile) rs2141679452
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu) rs766670643
NM_000243.3(MEFV):c.799A>T (p.Thr267Ser)
NM_000243.3(MEFV):c.909C>A (p.Thr303=) rs1429025477
NM_000304.4(PMP22):c.197A>C (p.Gln66Pro) rs1907131144
NM_000335.5(SCN5A):c.1047C>G (p.Asp349Glu)
NM_000335.5(SCN5A):c.1913G>A (p.Gly638Asp) rs199473578
NM_000335.5(SCN5A):c.2259C>A (p.Asn753Lys) rs878911306
NM_000335.5(SCN5A):c.2318C>G (p.Pro773Arg) rs2061687716
NM_000335.5(SCN5A):c.3387+8A>C rs2125867452
NM_000335.5(SCN5A):c.3388A>C (p.Thr1130Pro) rs371469522
NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu) rs756102773
NM_000335.5(SCN5A):c.3913C>A (p.Arg1305Ser) rs1403211358
NM_000335.5(SCN5A):c.392+3A>G rs2062503289
NM_000335.5(SCN5A):c.4810+4G>A rs1011460663
NM_000335.5(SCN5A):c.4810+5G>A rs2125830430
NM_000335.5(SCN5A):c.5287G>T (p.Val1763Phe) rs199473309
NM_000335.5(SCN5A):c.935-3C>G rs766127222
NM_000371.4(TTR):c.185A>C (p.Glu62Ala) rs11541796
NM_000371.4(TTR):c.232C>G (p.Leu78Val)
NM_000371.4(TTR):c.239C>G (p.Thr80Ser) rs1254341785
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg) rs1798913255
NM_000492.4(CFTR):c.878T>C (p.Leu293Pro) rs2116683530
NM_000517.6(HBA2):c.358C>G (p.Pro120Ala) rs1262943621
NM_001065.4(TNFRSF1A):c.796C>A (p.Pro266Thr)
NM_001163435.3(TBCK):c.783G>T (p.Arg261Ser) rs1476004978
NM_004006.3(DMD):c.58A>C (p.Thr20Pro)
NM_018294.6(CWF19L1):c.1552GAG[1] (p.Glu519del) rs746710766

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