ClinVar Miner

List of variants reported as likely pathogenic for inborn mitochondrial metabolism disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn) rs780533096 0.00001
NC_012920.1(MT-ND1):m.3502T>C rs1603218987
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) rs1597981046
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006012.2(CLPP):c.-995_270+222del
NM_006796.3(AFG3L2):c.1749G>A (p.Trp583Ter)
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter) rs1208636573
NM_025150.5(TARS2):c.1900C>T (p.Gln634Ter)
Single allele

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