ClinVar Miner

List of variants reported as pathogenic for Alstrom syndrome by Natera, Inc.

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Total variants: 7
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NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)

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