ClinVar Miner

List of variants in gene combination ALMS1, LOC126806252 reported as pathogenic for Alstrom syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.11873-1G>C rs2104195295
NM_001378454.1(ALMS1):c.11873-2A>T rs786205527
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs) rs758732551
NM_001378454.1(ALMS1):c.11878dup (p.Ser3960fs)
NM_001378454.1(ALMS1):c.11882G>A (p.Trp3961Ter) rs1332287946
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer) rs2104195495
NM_001378454.1(ALMS1):c.11960G>A (p.Trp3987Ter)
NM_001378454.1(ALMS1):c.11991G>A (p.Trp3997Ter) rs1553421725
NM_001378454.1(ALMS1):c.12020del (p.Gln4007fs)
NM_001378454.1(ALMS1):c.12040_12041del (p.Arg4014fs)
NM_001378454.1(ALMS1):c.12044del (p.Gly4015fs) rs1675682743
NM_001378454.1(ALMS1):c.12059del (p.Pro4020fs) rs2104196326
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs) rs1553421741
NM_001378454.1(ALMS1):c.12111dup (p.Gln4038fs) rs1675685953
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter) rs1675708936
NM_001378454.1(ALMS1):c.12151dup (p.Arg4051fs)
NM_001378454.1(ALMS1):c.12175del (p.Arg4058_Leu4059insTer)
NM_001378454.1(ALMS1):c.12199A>T (p.Lys4067Ter)
NM_001378454.1(ALMS1):c.12215T>A (p.Leu4072Ter)
NM_001378454.1(ALMS1):c.12217C>T (p.Gln4073Ter)
NM_001378454.1(ALMS1):c.12259C>T (p.Gln4087Ter)

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