ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.2943C>T (p.Gly981=) rs886042637
NM_018965.4(TREM2):c.40+1G>A
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515

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