ClinVar Miner

List of variants in gene WNK1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510 0.00096
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) rs72647372 0.00058
NM_018979.4(WNK1):c.2468A>G (p.His823Arg) rs56015776 0.00043
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu) rs759895083 0.00009
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NM_213655.5(WNK1):c.2350C>T (p.Arg784Cys) rs758110645 0.00004
NM_018979.4(WNK1):c.5326G>A (p.Glu1776Lys) rs551435012 0.00003
NM_213655.5(WNK1):c.2926G>A (p.Gly976Ser) rs369073199 0.00003
NM_018979.4(WNK1):c.2092G>A (p.Val698Ile) rs764336343 0.00002
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr) rs763686798 0.00002
NM_018979.4(WNK1):c.459C>G (p.Pro153=) rs1446171264 0.00001
GRCh37/hg19 12p13.33(chr12:862732-1017641)x1
NM_018979.4(WNK1):c.1829G>T (p.Ser610Ile)
NM_018979.4(WNK1):c.2374-4C>T rs1176268709
NM_018979.4(WNK1):c.3492G>A (p.Val1164=) rs778613425
NM_018979.4(WNK1):c.3770G>A (p.Arg1257Gln)
NM_018979.4(WNK1):c.469C>A (p.Pro157Thr)
NM_018979.4(WNK1):c.5491A>G (p.Thr1831Ala)
NM_018979.4(WNK1):c.6175A>G (p.Met2059Val) rs1298904248
NM_213655.5(WNK1):c.2722G>C (p.Glu908Gln) rs1592096494
NM_213655.5(WNK1):c.3016G>T (p.Gly1006Cys) rs1592098532
NM_213655.5(WNK1):c.3364C>T (p.Pro1122Ser)

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