ClinVar Miner

List of variants studied for Alstrom syndrome by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270

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