ClinVar Miner

List of variants in gene PXDN reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=) rs372463004 0.00204
NM_012293.3(PXDN):c.488+8G>C rs142878073 0.00184
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697 0.00162
NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp) rs200127189 0.00160
NM_012293.3(PXDN):c.19G>T (p.Gly7Cys) rs775995985 0.00133
NM_012293.3(PXDN):c.1112C>T (p.Pro371Leu) rs201592851 0.00096
NM_012293.3(PXDN):c.1656C>T (p.Pro552=) rs200276592 0.00066
NM_012293.3(PXDN):c.2097C>T (p.Asn699=) rs369631419 0.00036
NM_012293.3(PXDN):c.2787G>A (p.Leu929=) rs753095408 0.00015
NM_012293.3(PXDN):c.1596C>T (p.Ser532=) rs375578544 0.00014
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr) rs186563338 0.00013
NM_012293.3(PXDN):c.*1G>T rs886038586 0.00001
NM_012293.3(PXDN):c.1239T>C (p.Ser413=) rs759183762 0.00001
NM_012293.3(PXDN):c.3642T>C (p.Phe1214=) rs544242132 0.00001
NM_012293.3(PXDN):c.1837+9C>A
NM_012293.3(PXDN):c.1893G>T (p.Ala631=)
NM_012293.3(PXDN):c.2793C>T (p.Ser931=)
NM_012293.3(PXDN):c.2919C>T (p.Ala973=)
NM_012293.3(PXDN):c.3477C>A (p.Ile1159=)
NM_012293.3(PXDN):c.3894C>T (p.Tyr1298=)
NM_012293.3(PXDN):c.81G>T (p.Val27=)

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