ClinVar Miner

List of variants studied for Alstrom syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001378454.1(ALMS1):c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511fs) rs2104104085
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter) rs397514576
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter) rs193919338
NM_015120.4:c.11054_11055ins[N[333];11041_11054]

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