ClinVar Miner

List of variants reported as likely pathogenic for Alstrom syndrome by Invitae

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Total variants: 20
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HGVS dbSNP
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73678717_73689164del
NC_000002.11:g.(?_73679790_73710618del
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73760681_73762027del
NC_000002.11:g.(?_73760681_73762028del
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.11669-2A>G
NM_001378454.1(ALMS1):c.12115-2A>T
NM_001378454.1(ALMS1):c.12299-2A>G
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1432+2T>A
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.450+2T>C
NM_001378454.1(ALMS1):c.646+2T>C rs1572911143
NM_001378454.1(ALMS1):c.647-2A>T
NM_001378454.1(ALMS1):c.7674+1G>T
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1G>A

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