ClinVar Miner

List of variants in gene SDHD studied for mitochondrial complex II deficiency, nuclear type

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
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.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00049
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.116C>T (p.Pro39Leu) rs752689382 0.00002
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp) rs755584530 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550 0.00001
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys) rs202198133 0.00001
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly) rs748545223 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684 0.00001
NM_003002.4(SDHD):c.328G>A (p.Val110Ile) rs1060503771 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.353A>G (p.Asp118Gly) rs750857413 0.00001
NM_003002.4(SDHD):c.356C>T (p.Ala119Val) rs758784300 0.00001
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro) rs1312671864 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096 0.00001
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser) rs770909248 0.00001
NM_003002.4(SDHD):c.430T>C (p.Tyr144His) rs774243340 0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys) rs745732631 0.00001
NM_003002.4(SDHD):c.433C>A (p.His145Asn) rs121908984 0.00001
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr) rs541477171 0.00001
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864 0.00001
NM_003002.4(SDHD):c.113_122del (p.Arg38fs)
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr) rs1592778916
NM_003002.4(SDHD):c.167A>G (p.His56Arg) rs1555186817
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro) rs1592780294
NM_003002.4(SDHD):c.175T>G (p.Ser59Ala)
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.4(SDHD):c.233G>T (p.Gly78Val) rs1865688426
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu) rs1555187033
NM_003002.4(SDHD):c.275A>G (p.Asp92Gly) rs786205436
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe) rs199754684
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.315-1G>A rs1555187566
NM_003002.4(SDHD):c.315-2A>T
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.316G>A (p.Gly106Ser)
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.332T>C (p.Val111Ala) rs1592786183
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser) rs201726097
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn) rs1592786384
NM_003002.4(SDHD):c.53-6C>A rs757454290
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649

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