List of variants reported for Alstrom syndrome by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)	rs539612316	0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)	rs750326619	0.00001
NM_001378454.1(ALMS1):c.10825C>T (p.Gln3609Ter)	rs79893082
NM_001378454.1(ALMS1):c.11651_11654del (p.Asn3884fs)	rs2466516478
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter)	rs1248541208
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)	rs2466097334
NM_001378454.1(ALMS1):c.4711_4712dup (p.Ser1572fs)	rs2466102505
NM_001378454.1(ALMS1):c.6308_6318del (p.Ile2103fs)	rs1348039836
NM_001378454.1(ALMS1):c.9050del (p.Asn3017fs)

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