ClinVar Miner

List of variants studied for Fetal akinesia deformation sequence 4

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002532.6(NUP88):c.2172T>C (p.His724=) rs11209 0.44165
NM_002532.6(NUP88):c.2157A>G (p.Lys719=) rs1071705 0.42492
NM_002532.6(NUP88):c.1292-19G>A rs1806240 0.42485
NM_002532.6(NUP88):c.1836-38G>T rs748486 0.42467
NM_002532.6(NUP88):c.1389A>T (p.Pro463=) rs14231 0.42466
NM_002532.6(NUP88):c.1916+3C>T rs739768 0.42452
NM_002532.6(NUP88):c.1916+25T>G rs739767 0.42442
NM_002532.6(NUP88):c.468-38G>T rs1806263 0.29804
NM_002532.6(NUP88):c.1510C>T (p.Pro504Ser) rs767864487 0.00009
NM_002532.6(NUP88):c.1525C>T (p.Arg509Ter) rs774070092 0.00001
NM_002532.6(NUP88):c.1117C>T (p.Leu373Phe)
NM_002532.6(NUP88):c.1300G>T (p.Asp434Tyr) rs1567568217
NM_002532.6(NUP88):c.16G>A (p.Gly6Arg)
NM_002532.6(NUP88):c.1899_1901del (p.Glu634del) rs776532930
NM_002532.6(NUP88):c.585C>T (p.Asn195=)

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