ClinVar Miner

List of variants studied for Dorfman-Chanarin disease by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) rs104893676 0.00087
NM_016006.6(ABHD5):c.774-1G>A rs908673218 0.00001
NM_016006.6(ABHD5):c.134-2A>G rs1575600969
NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) rs28939077
NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) rs387906336
NM_016006.6(ABHD5):c.594dup (p.Arg199fs) rs387906335
NM_016006.6(ABHD5):c.778G>A (p.Glu260Lys) rs28939078
NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) rs104893675

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