ClinVar Miner

List of variants reported as likely benign for Alstrom syndrome by Illumina Clinical Services Laboratory,Illumina

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Total variants: 6
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala) rs750493624
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=) rs886038613
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp) rs886056304
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr) rs886038615
NM_015120.4(ALMS1):c.-39CTC[4] rs746980000

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