ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by Counsyl

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Total variants: 16
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HGVS dbSNP
NM_015120.4(ALMS1):c.10788_10789TG[1] (p.Val3597fs) rs1218465638
NM_015120.4(ALMS1):c.10829_10830AG[1] (p.Arg3611fs) rs755616266
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11314_11315AG[1] (p.Glu3773fs) rs747272625
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.11616_11617CT[1] (p.Ser3873fs) rs1476205467
NM_015120.4(ALMS1):c.11651_11652insGTTA (p.Asn3885fs) rs760264695
NM_015120.4(ALMS1):c.4156dup (p.Thr1386fs) rs797045228
NM_015120.4(ALMS1):c.4913_4916TAAA[1] (p.Asn1639fs) rs779366889
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5630dup (p.Gly1878fs) rs1553404109
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs) rs1034630858
NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) rs1553404283
NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer) rs1225343345
NM_015120.4(ALMS1):c.8394dup (p.Leu2799fs) rs1553409715

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