ClinVar Miner

List of variants in gene SDHC studied for Paragangliomas 3

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.-32T>C rs115782155 0.01342
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_003001.5(SDHC):c.20+22G>C rs182261879 0.00032
NM_003001.5(SDHC):c.405+23C>T rs373731336 0.00026
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_003001.5(SDHC):c.98C>T (p.Thr33Met) rs148566767 0.00007
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) rs772450693 0.00005
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295 0.00003
NM_003001.5(SDHC):c.*20T>G rs587778662 0.00002
NM_003001.5(SDHC):c.197C>T (p.Ala66Val) rs760572684 0.00002
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003001.5(SDHC):c.11T>C (p.Leu4Pro) rs774299337 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.295T>C (p.Tyr99His) rs760678574 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003001.5(SDHC):c.64C>T (p.Leu22Phe) rs1473438869 0.00001
NM_003001.5(SDHC):c.82G>T (p.Val28Phe) rs754818119 0.00001
NC_000001.10:g.(?_161310384)_(161310445_?)dup
NC_000001.11:g.(?_161356677)_(161356840_?)del
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)
NM_003001.5(SDHC):c.118del (p.Arg40fs)
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.22C>A (p.His8Asn) rs746666691
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter) rs1672294906
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003001.5(SDHC):c.406-1G>A
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs) rs1672548902
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
NM_003001.5(SDHC):c.49del (p.His17fs)
NM_003001.5(SDHC):c.77+1G>C

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