ClinVar Miner

List of variants studied for classic organic aciduria by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.542-3C>G rs781795144
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg) rs1026703654
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112
NM_001370658.1(BTD):c.124G>A (p.Val42Met) rs397507170
NM_001370658.1(BTD):c.772C>G (p.Leu258Val) rs397514388
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
NM_005050.4(ABCD4):c.719+2T>G
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro) rs1553506164
NM_014362.4(HIBCH):c.830T>A (p.Val277Glu) rs1553499757
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp) rs1599964721
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_052845.4(MMAB):c.197-1G>T rs763935916

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