ClinVar Miner

List of variants in gene NKX2-5 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu) rs761596254 0.00009
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 0.00008
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys) rs866974584 0.00004
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr) rs770192204 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr) rs1279595214 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val) rs762090105 0.00003
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) rs769233111 0.00002
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) rs373421818 0.00002
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val) rs1012750146 0.00001
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu) rs763729448 0.00001
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) rs754394393 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys) rs1310163851 0.00001
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg) rs1761355968 0.00001
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr) rs760305842 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.695G>C (p.Gly232Ala) rs759339072 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) rs936204422 0.00001
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) rs1196710127 0.00001
NM_004387.4(NKX2-5):c.-2C>T
NM_004387.4(NKX2-5):c.100T>C (p.Ser34Pro)
NM_004387.4(NKX2-5):c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla)
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.199C>G (p.Pro67Ala)
NM_004387.4(NKX2-5):c.199C>T (p.Pro67Ser)
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.248C>T (p.Ala83Val)
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
NM_004387.4(NKX2-5):c.286G>A (p.Ala96Thr)
NM_004387.4(NKX2-5):c.293G>C (p.Ser98Thr)
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) rs550046293
NM_004387.4(NKX2-5):c.317C>G (p.Pro106Arg)
NM_004387.4(NKX2-5):c.334+3G>A
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) rs760723447
NM_004387.4(NKX2-5):c.350A>C (p.Gln117Pro)
NM_004387.4(NKX2-5):c.351G>C (p.Gln117His)
NM_004387.4(NKX2-5):c.365T>C (p.Leu122Pro)
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
NM_004387.4(NKX2-5):c.382G>A (p.Asp128Asn)
NM_004387.4(NKX2-5):c.404C>G (p.Ala135Gly)
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
NM_004387.4(NKX2-5):c.421C>A (p.Pro141Thr)
NM_004387.4(NKX2-5):c.435C>G (p.Phe145Leu)
NM_004387.4(NKX2-5):c.436T>A (p.Ser146Thr)
NM_004387.4(NKX2-5):c.464G>A (p.Arg155Gln)
NM_004387.4(NKX2-5):c.480G>T (p.Gln160His)
NM_004387.4(NKX2-5):c.485A>G (p.Tyr162Cys)
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
NM_004387.4(NKX2-5):c.520G>T (p.Val174Leu)
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
NM_004387.4(NKX2-5):c.554G>C (p.Trp185Ser)
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro) rs1471444031
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly) rs771533553
NM_004387.4(NKX2-5):c.617G>A (p.Gly206Glu)
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu) rs372282873
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.664G>C (p.Val222Leu)
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) rs2113901265
NM_004387.4(NKX2-5):c.697G>C (p.Asp233His)
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) rs1761349696
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser) rs867226708
NM_004387.4(NKX2-5):c.739C>A (p.Pro247Thr)
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala)
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211
NM_004387.4(NKX2-5):c.770C>T (p.Pro257Leu)
NM_004387.4(NKX2-5):c.784G>T (p.Ala262Ser)
NM_004387.4(NKX2-5):c.787G>C (p.Ala263Pro)
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
NM_004387.4(NKX2-5):c.806G>A (p.Ser269Asn)
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg) rs772729751
NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)
NM_004387.4(NKX2-5):c.857C>T (p.Ala286Val)
NM_004387.4(NKX2-5):c.85G>A (p.Ala29Thr) rs1554093718
NM_004387.4(NKX2-5):c.863C>T (p.Ala288Val)
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr) rs1318592912
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe) rs569535312
NM_004387.4(NKX2-5):c.899T>C (p.Leu300Ser)
NM_004387.4(NKX2-5):c.900G>C (p.Leu300Phe)
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met) rs2113900561
NM_004387.4(NKX2-5):c.961A>G (p.Ile321Val)
NM_004387.4(NKX2-5):c.97C>T (p.Leu33Phe)

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