ClinVar Miner

List of variants in gene PKD1 studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr) rs773053314 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.2215C>T (p.Arg739Trp) rs747483368
NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) rs1555454847
NM_001009944.3(PKD1):c.6472C>T (p.Gln2158Ter) rs2092423837

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