List of variants reported as pathogenic for Alstrom syndrome by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs)	rs2104105065
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs)	rs2104194220
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)

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