ClinVar Miner

List of variants studied for NIK deficiency

Included ClinVar conditions (1):
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Total variants: 46
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HGVS dbSNP
NM_003954.5(MAP3K14):c.1009C>T (p.Leu337=) rs374376396
NM_003954.5(MAP3K14):c.1091G>C (p.Gly364Ala)
NM_003954.5(MAP3K14):c.115G>A (p.Val39Ile)
NM_003954.5(MAP3K14):c.1290+5G>A rs781259100
NM_003954.5(MAP3K14):c.132C>T (p.Ala44=) rs55740287
NM_003954.5(MAP3K14):c.1420+4A>G
NM_003954.5(MAP3K14):c.145C>G (p.Pro49Ala)
NM_003954.5(MAP3K14):c.1546G>A (p.Val516Ile) rs367938510
NM_003954.5(MAP3K14):c.1587C>T (p.His529=) rs562409633
NM_003954.5(MAP3K14):c.1651C>G (p.Leu551Val)
NM_003954.5(MAP3K14):c.1657G>A (p.Gly553Arg)
NM_003954.5(MAP3K14):c.1720G>A (p.Asp574Asn)
NM_003954.5(MAP3K14):c.1794G>C (p.Gln598His)
NM_003954.5(MAP3K14):c.1798T>C (p.Phe600Leu)
NM_003954.5(MAP3K14):c.2020C>T (p.His674Tyr) rs11867907
NM_003954.5(MAP3K14):c.2096G>C (p.Gly699Ala)
NM_003954.5(MAP3K14):c.2290A>G (p.Thr764Ala) rs56302559
NM_003954.5(MAP3K14):c.2292C>T (p.Thr764=) rs746706058
NM_003954.5(MAP3K14):c.2312A>C (p.Gln771Pro) rs148416800
NM_003954.5(MAP3K14):c.2405G>C (p.Ser802Thr)
NM_003954.5(MAP3K14):c.2433+3G>A
NM_003954.5(MAP3K14):c.2434-10G>A rs34836788
NM_003954.5(MAP3K14):c.2543G>A (p.Arg848Gln)
NM_003954.5(MAP3K14):c.2615A>G (p.His872Arg)
NM_003954.5(MAP3K14):c.2668A>G (p.Ile890Val)
NM_003954.5(MAP3K14):c.2679+5G>A
NM_003954.5(MAP3K14):c.2779G>A (p.Ala927Thr) rs1567984601
NM_003954.5(MAP3K14):c.2820T>C (p.His940=) rs751517422
NM_003954.5(MAP3K14):c.296G>A (p.Arg99His) rs762182665
NM_003954.5(MAP3K14):c.307G>A (p.Ala103Thr)
NM_003954.5(MAP3K14):c.326+10G>A rs372339711
NM_003954.5(MAP3K14):c.411G>C (p.Lys137Asn)
NM_003954.5(MAP3K14):c.419G>A (p.Ser140Asn) rs11574819
NM_003954.5(MAP3K14):c.521G>A (p.Cys174Tyr) rs184263319
NM_003954.5(MAP3K14):c.555C>T (p.Leu185=) rs191629489
NM_003954.5(MAP3K14):c.559G>A (p.Ala187Thr)
NM_003954.5(MAP3K14):c.643G>A (p.Glu215Lys)
NM_003954.5(MAP3K14):c.656C>T (p.Pro219Leu)
NM_003954.5(MAP3K14):c.668G>A (p.Arg223Gln)
NM_003954.5(MAP3K14):c.727C>T (p.His243Tyr)
NM_003954.5(MAP3K14):c.764C>T (p.Thr255Met) rs11574820
NM_003954.5(MAP3K14):c.774C>G (p.Phe258Leu) rs148344770
NM_003954.5(MAP3K14):c.820C>T (p.Pro274Ser) rs747466210
NM_003954.5(MAP3K14):c.823T>C (p.Trp275Arg) rs373635359
NM_003954.5(MAP3K14):c.880A>C (p.Lys294Gln) rs113278485
NM_003954.5(MAP3K14):c.916T>C (p.Cys306Arg) rs766805198

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