ClinVar Miner

List of variants in gene NKX2-5 reported as likely benign by GeneDx

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004387.4(NKX2-5):c.335-331A>T rs375676786 0.01339
NM_004387.4(NKX2-5):c.334+63G>A rs72554031 0.00977
NM_004387.4(NKX2-5):c.335-82C>G rs183405705 0.00712
NM_004387.4(NKX2-5):c.*197G>C rs191625345 0.00634
NM_004387.4(NKX2-5):c.335-315_335-311del rs767630916 0.00143
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) rs151314714 0.00078
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) rs113818864 0.00071
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) rs374150672 0.00023
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) rs368366482 0.00013
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) rs754229011 0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) rs376792087 0.00006
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=) rs370499146 0.00004
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=) rs762428190 0.00003
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=) rs1057523798 0.00001
NM_004387.4(NKX2-5):c.583C>A (p.Arg195=) rs960527591 0.00001
NM_004387.4(NKX2-5):c.217C>T (p.Leu73=) rs1554093696
NM_004387.4(NKX2-5):c.334+9G>T rs534308328
NM_004387.4(NKX2-5):c.335-311_335-303del rs200467566
NM_004387.4(NKX2-5):c.335-311_335-310del rs774726585
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) rs769566306
NM_004387.4(NKX2-5):c.60G>C (p.Leu20=) rs554604572

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