ClinVar Miner

List of variants studied for classic organic aciduria by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (46):
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ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter) rs138149179 0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu) rs397514400 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter) rs144484373 0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046 0.00002
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_001698.3(AUH):c.263-2A>G rs730880311 0.00001
NM_000019.4(ACAT1):c.369_372del (p.Asn123fs)
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter) rs2152278559
NM_000282.4(PCCA):c.805C>T (p.His269Tyr) rs2062620327
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys) rs2131844929
NM_001081.4(CUBN):c.4350+5G>A rs200324164
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) rs1057516035

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