ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10078+1G>T rs765075310 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.12299-2A>G rs759788656 0.00001
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716741)_(73718645_?)dup
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73777384)_(73800561_?)dup
NC_000002.11:g.(?_73799379)_(73800561_?)dup
NM_001378454.1(ALMS1):c.10079-1G>C rs1361885101
NM_001378454.1(ALMS1):c.10079-2A>G
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+1G>T
NM_001378454.1(ALMS1):c.10213_10213+2del
NM_001378454.1(ALMS1):c.10214-2A>G rs2104063527
NM_001378454.1(ALMS1):c.10384+1G>A rs766366221
NM_001378454.1(ALMS1):c.11547+2T>C
NM_001378454.1(ALMS1):c.11547+3A>T rs1271250182
NM_001378454.1(ALMS1):c.11548-2A>G
NM_001378454.1(ALMS1):c.11548-4_11549del
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11669-22_11686del
NM_001378454.1(ALMS1):c.11872+2T>A rs1553421657
NM_001378454.1(ALMS1):c.12114+1G>A
NM_001378454.1(ALMS1):c.12115-1G>T rs769160407
NM_001378454.1(ALMS1):c.12115-2A>T rs1394193524
NM_001378454.1(ALMS1):c.12299-1G>A rs1313101326
NM_001378454.1(ALMS1):c.12299-1G>C
NM_001378454.1(ALMS1):c.12299-1del
NM_001378454.1(ALMS1):c.12362+1G>A rs2104203068
NM_001378454.1(ALMS1):c.12363-2A>C rs2104216032
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1237+2T>G rs916056435
NM_001378454.1(ALMS1):c.1432+2T>A rs2103734661
NM_001378454.1(ALMS1):c.1432+2T>C
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1433-2A>G rs2103770992
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.450+1G>A rs1302255267
NM_001378454.1(ALMS1):c.450+2T>C rs1671019928
NM_001378454.1(ALMS1):c.451-2A>G
NM_001378454.1(ALMS1):c.646+2T>A rs1572911143
NM_001378454.1(ALMS1):c.646+2T>C rs1572911143
NM_001378454.1(ALMS1):c.647-2A>T rs1671310097
NM_001378454.1(ALMS1):c.7540+1G>A
NM_001378454.1(ALMS1):c.7540+1G>T
NM_001378454.1(ALMS1):c.7540+2T>C rs1672009270
NM_001378454.1(ALMS1):c.765-1G>C
NM_001378454.1(ALMS1):c.9781+1G>C
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1G>A rs1673992163
NM_001378454.1(ALMS1):c.9907+1G>A

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