ClinVar Miner

List of variants in gene combination LOC126861339, SDHD reported as uncertain significance for Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3

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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.38C>T (p.Ala13Val) rs750080041 0.00003
NM_003002.4(SDHD):c.13T>C (p.Trp5Arg) rs778202647 0.00001
NM_003002.4(SDHD):c.25G>T (p.Ala9Ser) rs772671893 0.00001
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp) rs764384503 0.00001
NM_003002.4(SDHD):c.49C>G (p.Arg17Gly) rs1314133983 0.00001
NM_003002.4(SDHD):c.5C>T (p.Ala2Val) rs1440670464 0.00001
NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)
NM_003002.4(SDHD):c.10C>G (p.Leu4Val)
NM_003002.4(SDHD):c.10C>T (p.Leu4Phe) rs1032016970
NM_003002.4(SDHD):c.13T>A (p.Trp5Arg)
NM_003002.4(SDHD):c.16A>G (p.Arg6Gly) rs11547889
NM_003002.4(SDHD):c.17G>A (p.Arg6Lys)
NM_003002.4(SDHD):c.18G>T (p.Arg6Ser) rs200895313
NM_003002.4(SDHD):c.20T>A (p.Leu7Gln) rs1865619523
NM_003002.4(SDHD):c.20T>C (p.Leu7Pro) rs1865619523
NM_003002.4(SDHD):c.20T>G (p.Leu7Arg) rs1865619523
NM_003002.4(SDHD):c.22A>G (p.Ser8Gly) rs1865619629
NM_003002.4(SDHD):c.23G>A (p.Ser8Asn) rs558914063
NM_003002.4(SDHD):c.23G>C (p.Ser8Thr)
NM_003002.4(SDHD):c.24T>G (p.Ser8Arg)
NM_003002.4(SDHD):c.25G>A (p.Ala9Thr) rs772671893
NM_003002.4(SDHD):c.26C>G (p.Ala9Gly) rs1592777287
NM_003002.4(SDHD):c.26C>T (p.Ala9Val) rs1592777287
NM_003002.4(SDHD):c.28G>A (p.Val10Ile) rs1555186671
NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)
NM_003002.4(SDHD):c.34G>T (p.Gly12Cys)
NM_003002.4(SDHD):c.35G>T (p.Gly12Val) rs764384503
NM_003002.4(SDHD):c.37G>A (p.Ala13Thr) rs940936212
NM_003002.4(SDHD):c.37G>T (p.Ala13Ser) rs940936212
NM_003002.4(SDHD):c.38C>G (p.Ala13Gly) rs750080041
NM_003002.4(SDHD):c.43G>C (p.Gly15Arg) rs1476121898
NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)
NM_003002.4(SDHD):c.44G>C (p.Gly15Ala) rs1865621392
NM_003002.4(SDHD):c.46G>C (p.Gly16Arg) rs1555186687
NM_003002.4(SDHD):c.46G>T (p.Gly16Cys) rs1555186687
NM_003002.4(SDHD):c.47G>A (p.Gly16Asp)
NM_003002.4(SDHD):c.47G>T (p.Gly16Val)
NM_003002.4(SDHD):c.4G>A (p.Ala2Thr) rs1401420432
NM_003002.4(SDHD):c.50G>A (p.Arg17Gln) rs1865621723
NM_003002.4(SDHD):c.51A>C (p.Arg17=) rs199890548
NM_003002.4(SDHD):c.52+3G>C
NM_003002.4(SDHD):c.52+5G>A rs1592777393
NM_003002.4(SDHD):c.52+5G>C rs1592777393
NM_003002.4(SDHD):c.5C>G (p.Ala2Gly) rs1440670464
NM_003002.4(SDHD):c.7G>A (p.Val3Ile) rs1555186656
NM_003002.4(SDHD):c.7G>C (p.Val3Leu) rs1555186656
NM_003002.4(SDHD):c.7G>T (p.Val3Phe) rs1555186656

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