ClinVar Miner

List of variants in gene ALMS1 reported by Fulgent Genetics

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Total variants: 12
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HGVS dbSNP
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11414G>C (p.Arg3805Thr) rs201028172
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val)
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.12040G>A (p.Gly4014Ser) rs541576664
NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.3571A>G (p.Thr1191Ala) rs772287164
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.4252C>T (p.Arg1418Trp) rs199615803
NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) rs201252809
NM_015120.4(ALMS1):c.9148A>G (p.Ile3050Val)

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