ClinVar Miner

List of variants studied for Alstrom syndrome by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994

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