ClinVar Miner

List of variants in gene PKD2 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000297.4(PKD2):c.*1030G>A rs2725202
NM_000297.4(PKD2):c.*1237G>A rs10965
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.*256C>T rs2728121
NM_000297.4(PKD2):c.*837C>G rs77638442
NM_000297.4(PKD2):c.-26C>T rs530444554
NM_000297.4(PKD2):c.-82G>C rs529779778
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.4(PKD2):c.1548+9G>C rs376901684
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.4(PKD2):c.70C>T (p.Pro24Ser) rs786204221
NM_000297.4(PKD2):c.78G>T (p.Pro26=) rs899378635
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044

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