ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11311_11312delGA (p.Asp3771Terfs) rs1553418578
NM_015120.4(ALMS1):c.11397_11398delAG (p.Arg3799Serfs) rs1553418598
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter)
NM_015120.4(ALMS1):c.12208C>T (p.Gln4070Ter)
NM_015120.4(ALMS1):c.2141_2142delCT (p.Ser714Tyrfs) rs387906313
NM_015120.4(ALMS1):c.3902C>A (p.Ser1301Ter) rs769219669
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.800G>A (p.Trp267Ter)
NM_015120.4(ALMS1):c.928C>T (p.Gln310Ter)

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