ClinVar Miner

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

Included ClinVar conditions (913):
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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_001009944.3(PKD1):c.10698_10703GGCTGT[4] (p.3567_3568AV[4]) rs777460677
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) rs1057516200
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met) rs1555446946
NM_001009944.3(PKD1):c.11017-3C>T rs185355445
NM_001009944.3(PKD1):c.11270-10T>A rs1567154300
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390

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