ClinVar Miner

List of variants in gene ALMS1 reported as likely pathogenic by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter) rs2103780942
NM_001378454.1(ALMS1):c.450+2T>C rs1671019928
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163

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