ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by Invitae

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Total variants: 22
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HGVS dbSNP
NM_015120.4(ALMS1):c.10303delCinsGA (p.Gln3435Glufs) rs1060500034
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.11316_11319delAGAG (p.Glu3773Trpfs) rs747272625
NM_015120.4(ALMS1):c.11423_11427delAATTA (p.Lys3808Ilefs) rs1553418609
NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) rs1553403321
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) rs539612316
NM_015120.4(ALMS1):c.3019dup (p.Arg1007Lysfs) rs878854998
NM_015120.4(ALMS1):c.363_366dupAGTA (p.Tyr123Serfs) rs753301358
NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter) rs969786171
NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter) rs904289501
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter) rs769440001
NM_015120.4(ALMS1):c.563dup (p.Ser190Leufs) rs1439541639
NM_015120.4(ALMS1):c.6169_6170dup (p.Leu2058Phefs) rs759603306
NM_015120.4(ALMS1):c.6375delT (p.Pro2126Leufs) rs1553404220
NM_015120.4(ALMS1):c.6850dup (p.Leu2284Profs)
NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) rs1060500039
NM_015120.4(ALMS1):c.7304_7305delAG (p.Glu2435Valfs) rs1246023978
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.9422_9423delAG (p.Gln3141Argfs)
NM_015120.4(ALMS1):c.9433dup (p.Thr3145Asnfs) rs878855003
NM_015120.4(ALMS1):c.9541C>T (p.Arg3181Ter)

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