List of variants reported as pathogenic for Alstrom syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)	rs772624348	0.00004
NM_001378454.1(ALMS1):c.11669-1G>A	rs750737346	0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)	rs776563011	0.00001
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)	rs780252175
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)	rs780843883
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs)	rs1553403656
NM_001378454.1(ALMS1):c.5280del (p.His1761fs)	rs2103785835

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