ClinVar Miner

List of variants in gene combination LOC105371049, PKD1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
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Total variants: 15
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HGVS dbSNP
NM_001009944.2(PKD1):c.10560dup (p.Pro3521Alafs) rs1555447196
NM_001009944.2(PKD1):c.10583G>A (p.Trp3528Ter) rs1057516041
NM_001009944.2(PKD1):c.10659delG (p.Trp3553Cysfs) rs1555447057
NM_001009944.2(PKD1):c.10710_10715delGGCTGT (p.Ala3571_Val3572del) rs777460677
NM_001009944.2(PKD1):c.11033delT (p.Met3678Serfs) rs1555446637
NM_001009944.2(PKD1):c.11078C>A (p.Ser3693Ter) rs745912756
NM_001009944.2(PKD1):c.11137dup (p.Ala3713Glyfs) rs1555446582
NM_001009944.2(PKD1):c.11249_11263delGGCAGGTGCGGCTGC (p.Arg3750_Leu3754del)
NM_001009944.2(PKD1):c.11277C>G (p.Tyr3759Ter) rs369825780
NM_001009944.2(PKD1):c.11314delG (p.Ala3772Profs) rs1555446033
NM_001009944.2(PKD1):c.11338_11344dup (p.Asp3782Glyfs) rs1555445999
NM_001009944.2(PKD1):c.11457C>A (p.Tyr3819Ter) rs199476098
NM_001009944.2(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.2(PKD1):c.11512C>T (p.Gln3838Ter) rs199476096
NM_001009944.3(PKD1):c.11156+1G>C

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