List of variants reported as pathogenic for Alstrom syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter)	rs150825781	0.00004
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)	rs768759374
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs)	rs387906313
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)	rs28730854
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)	rs549857076
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs)	rs1553409691
NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)

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