ClinVar Miner

List of variants reported as likely benign for Kilquist syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001046.3(SLC12A2):c.102G>A (p.Leu34=) rs535757373 0.00241
NM_001046.3(SLC12A2):c.2322A>C (p.Ser774=) rs115357531 0.00153
NM_001046.3(SLC12A2):c.3468A>G (p.Leu1156=) rs115092488 0.00098
NM_001046.3(SLC12A2):c.876+17_876+18del rs556046317 0.00094
NM_001046.3(SLC12A2):c.2748A>T (p.Gly916=) rs141683516 0.00080
NM_001046.3(SLC12A2):c.261C>T (p.Ser87=) rs543480974 0.00068
NM_001046.3(SLC12A2):c.3100+13A>T rs199929591 0.00066
NM_001046.3(SLC12A2):c.495C>T (p.Asp165=) rs138234695 0.00051
NM_001046.3(SLC12A2):c.953-7C>T rs201608609 0.00041
NM_001046.3(SLC12A2):c.1941A>G (p.Lys647=) rs190573592 0.00030
NM_001046.3(SLC12A2):c.2493C>A (p.Ala831=) rs138341229 0.00023
NM_001046.3(SLC12A2):c.2511C>T (p.Ile837=) rs1053614 0.00019
NM_001046.3(SLC12A2):c.1128C>T (p.Asn376=) rs371700719 0.00016
NM_001046.3(SLC12A2):c.1773+15T>C rs199958255 0.00013
NM_001046.3(SLC12A2):c.877-16C>G rs530956302 0.00004
NM_001046.3(SLC12A2):c.3100+20T>A rs776147551 0.00003
NM_001046.3(SLC12A2):c.476C>T (p.Ala159Val) rs774885519 0.00002
NM_001046.3(SLC12A2):c.2475+11A>G rs763550873 0.00001
NM_001046.3(SLC12A2):c.2107+11A>G rs189093520
NM_001046.3(SLC12A2):c.2894C>A (p.Ser965Tyr) rs529490835
NM_001046.3(SLC12A2):c.3134C>T (p.Thr1045Ile) rs777580088

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