List of variants reported as pathogenic for Alstrom syndrome by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)	rs758195453	0.00003
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)	rs1275113273	0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)	rs1674967197	0.00001
NM_001378454.1(ALMS1):c.11668+1G>T	rs1181992959
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)	rs756389027
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)	rs2103794046
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)	rs1434010689
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs)	rs1572970628

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