ClinVar Miner

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

Included ClinVar conditions (956):
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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803
NM_001009944.3(PKD1):c.10822-14C>T rs7192711
NM_001009944.3(PKD1):c.11156+13G>A rs142616270
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.11538-11C>T rs377692278
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=) rs567482892

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