ClinVar Miner

List of variants reported as pathogenic for autonomic nervous system disorder by OMIM

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_001933.5(DLST):c.1121G>A (p.Gly374Glu) rs1270341616 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter) rs74315369 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NC_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
NC_000011.9:g.(?_111957571)_(111966518_?)del
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.3(SDHB):c.201-4429_287-934del
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.3(SDHB):c.395A>C (p.His132Pro) rs74315372
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.716_719del (p.Ser239fs) rs587781266
NM_003001.5(SDHC):c.3G>A (p.Met1Ile) rs587776652
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter) rs104894303
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.278_280del (p.Tyr93del) rs121908983
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs) rs587776645
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.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.4(SDHD):c.443del (p.Gly148fs) rs587776646
NM_003002.4(SDHD):c.463del (p.Met155fs) rs587776647
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs) rs1374026152
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys) rs1567651815
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val) rs1203876038
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=) rs1567650874
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr) rs1567650859
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter) rs73810366
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln) rs1733941453
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu) rs1733899167
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs) rs587776626
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs) rs1733878065
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NP_003915.2:p.Ala260[(5_9)]

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