ClinVar Miner

List of variants in gene NIPA1 reported by GeneDx

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_144599.5(NIPA1):c.317+190C>G rs7168401 0.93290
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_144599.5(NIPA1):c.479-29C>T rs12592629 0.28001
NM_144599.5(NIPA1):c.479-239C>T rs61656257 0.27635
NM_144599.4(NIPA1):c.-359C>G rs62001112 0.25272
NM_144599.5(NIPA1):c.*287T>C rs3812924 0.22372
NM_144599.5(NIPA1):c.317+216T>C rs60823980 0.06496
NM_144599.5(NIPA1):c.227-93C>T rs74003090 0.06365
NM_144599.5(NIPA1):c.226+163C>T rs17137329 0.02935
NM_144599.5(NIPA1):c.478+154C>T rs59940862 0.02515
NM_144599.5(NIPA1):c.318-68A>G rs77146068 0.01863
NM_144599.5(NIPA1):c.317+274C>G rs58197448 0.01172
NM_001142275.1(NIPA1):c.-48+114G>C rs147356553 0.00968
NM_144599.5(NIPA1):c.478+220C>T rs143636957 0.00895
NM_144599.5(NIPA1):c.479-278T>C rs184154944 0.00766
NM_144599.5(NIPA1):c.179-212G>C rs117974214 0.00737
NM_144599.5(NIPA1):c.179-50C>T rs78177611 0.00426
NM_144599.5(NIPA1):c.178+52C>T rs1374117823 0.00353
NM_144599.5(NIPA1):c.317+198A>G rs190934577 0.00321
NM_144599.5(NIPA1):c.906C>T (p.Ser302=) rs147070285 0.00080
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_144599.5(NIPA1):c.537C>T (p.Ile179=) rs547634456 0.00006
NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu) rs779693743 0.00002
NM_144599.5(NIPA1):c.318-15C>T rs1555373770 0.00001
NM_144599.5(NIPA1):c.798C>T (p.Val266=) rs1008907564 0.00001
NM_001142275.1(NIPA1):c.-48+200del rs142739374
NM_144599.5(NIPA1):c.298G>A (p.Ala100Thr)
NM_144599.5(NIPA1):c.445_446insCGACTC (p.Thr148_Gln149insProThr) rs2503810813
NM_144599.5(NIPA1):c.478+232_478+237del rs145447453
NM_144599.5(NIPA1):c.550G>A (p.Gly184Arg)
NM_144599.5(NIPA1):c.620A>G (p.Lys207Arg)
NM_144599.5(NIPA1):c.623del (p.Gly208fs)
NM_144599.5(NIPA1):c.773C>T (p.Ser258Leu)
NM_144599.5(NIPA1):c.896C>T (p.Thr299Met) rs756976675

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