ClinVar Miner

List of variants in gene ALMS1 reported by OMIM

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Total variants: 8
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HGVS dbSNP
ALMS1, 19-BP INS
ALMS1, 333-BP ALU INS, EX16
NM_015120.4(ALMS1):c.10775del (p.Thr3592fs) rs387906312
NM_015120.4(ALMS1):c.10945G>T (p.Glu3649Ter) rs397514576
NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) rs193919339
NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs) rs387906313
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) rs193919340
NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter) rs193919338

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