ClinVar Miner

List of variants in gene LOC126806368, MMADHC studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_015702.3(MMADHC):c.9+14C>T rs140075619 0.00140
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_015702.3(MMADHC):c.9+12A>C rs570608507 0.00001
NM_015702.3(MMADHC):c.-52-3C>G rs886054922
NM_015702.3(MMADHC):c.9+12A>T
NM_015702.3(MMADHC):c.9+16C>T
NM_015702.3(MMADHC):c.9+17T>A rs372601477
NM_015702.3(MMADHC):c.9+17T>G
NM_015702.3(MMADHC):c.9+18T>G rs2105053453
NM_015702.3(MMADHC):c.9+19A>C
NM_015702.3(MMADHC):c.9+1G>A

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