ClinVar Miner

List of variants in gene SDHD reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.315-1669A>G rs592626 0.99043
NM_003002.4(SDHD):c.315-1490T>C rs10749989 0.43335
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_003002.4(SDHD):c.315-239G>A rs7122054 0.11432
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_003002.4(SDHD):c.315-1646C>T rs111659413 0.10719
NM_003002.4(SDHD):c.315-1402C>G rs370667125 0.04800
NM_003002.4(SDHD):c.315-1405del rs111885447 0.04791
NM_003002.4(SDHD):c.*260T>A rs149570245 0.04112
NM_003002.4(SDHD):c.315-1708C>T rs113458823 0.02846
NM_003002.4(SDHD):c.170-270T>A rs73568085 0.02800
NM_003002.4(SDHD):c.315-1522del rs200801490 0.00919
NM_003002.4(SDHD):c.315-1845A>G rs115588758 0.00801
NM_003002.4(SDHD):c.314+124T>C rs118074328 0.00706
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_003002.4(SDHD):c.*428A>G rs184654032 0.00590
NM_003002.4(SDHD):c.170-249C>A rs185296340 0.00502
NM_003002.4(SDHD):c.170-250T>A rs191996767 0.00502
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00049
NM_003002.4(SDHD):c.*5T>C rs201987672 0.00019
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836 0.00016
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389 0.00013
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_003002.4(SDHD):c.107A>G (p.Gln36Arg) rs759143732 0.00003
NM_003002.4(SDHD):c.118A>G (p.Ile40Val) rs146276662 0.00003
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118 0.00003
NM_003002.4(SDHD):c.366A>G (p.Lys122=) rs780764151 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864 0.00001
NM_003002.4(SDHD):c.88C>T (p.His30Tyr) rs561759202 0.00001
NM_003002.4(SDHD):c.89A>C (p.His30Pro) rs1592778803 0.00001
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter) rs1865655722
NM_003002.4(SDHD):c.140A>G (p.Gln47Arg) rs899706404
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.169+244del rs11315004
NM_003002.4(SDHD):c.191_192del (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.196T>C (p.Trp66Arg)
NM_003002.4(SDHD):c.197G>A (p.Trp66Ter)
NM_003002.4(SDHD):c.209G>C (p.Arg70Thr) rs755047928
NM_003002.4(SDHD):c.244G>C (p.Ala82Pro) rs745559875
NM_003002.4(SDHD):c.269C>A (p.Ala90Glu) rs200255724
NM_003002.4(SDHD):c.269C>T (p.Ala90Val) rs200255724
NM_003002.4(SDHD):c.275A>T (p.Asp92Val) rs786205436
NM_003002.4(SDHD):c.314+20del rs755475561
NM_003002.4(SDHD):c.314+3A>T
NM_003002.4(SDHD):c.314+5G>A rs1566695035
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_003002.4(SDHD):c.315-8T>C rs1592786101
NM_003002.4(SDHD):c.319C>G (p.Leu107Val) rs1209781530
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.321dup (p.Gly108fs) rs2135277367
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.354T>G (p.Asp118Glu) rs911663426
NM_003002.4(SDHD):c.370G>T (p.Ala124Ser)
NM_003002.4(SDHD):c.397G>C (p.Ala133Pro) rs1060503774
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.4(SDHD):c.427A>C (p.Asn143His)
NM_003002.4(SDHD):c.453A>C (p.Lys151Asn) rs761953172
NM_003002.4(SDHD):c.53-52_53-49del rs562618773
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.61C>T (p.Leu21Phe) rs1592778703
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034

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