ClinVar Miner

List of variants studied for classic organic aciduria by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959 0.00006
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00003
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) rs373771053 0.00002
NM_001698.3(AUH):c.505+1G>C rs773652620 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) rs199587895 0.00001
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter) rs768703749 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799 0.00001
NM_000019.4(ACAT1):c.238+2T>A rs2135334862
NM_000019.4(ACAT1):c.731-2A>G rs752216720
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_001243279.3(ACSF3):c.1367-464C>T rs2151560692
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro) rs1575031012
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr) rs397514418
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001370658.1(BTD):c.424G>C (p.Ala142Pro) rs2125500236
NM_001698.3(AUH):c.556G>T (p.Gly186Cys) rs1040881767
NM_002225.5(IVD):c.243G>A (p.Trp81Ter) rs540375168
NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu) rs759563092
NM_025136.4(OPA3):c.142+5G>C rs1250409781
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly) rs376128990
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) rs2136198139

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