ClinVar Miner

List of variants reported as uncertain significance for anterior segment dysgenesis 7

Included ClinVar conditions (1):
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala) rs201039175 0.00031
NM_012293.3(PXDN):c.3862G>A (p.Val1288Met) rs183629867 0.00024
NM_012293.3(PXDN):c.1789C>T (p.Arg597Trp) rs373022614 0.00014
NM_012293.3(PXDN):c.3551C>T (p.Thr1184Met) rs370226454 0.00013
NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro) rs371739601 0.00013
NM_012293.3(PXDN):c.3766G>A (p.Val1256Met) rs772632642 0.00012
NM_012293.3(PXDN):c.3655G>T (p.Val1219Leu) rs372395551 0.00006
NM_012293.3(PXDN):c.31C>T (p.Arg11Cys) rs995348999 0.00005
NM_012293.3(PXDN):c.1498T>C (p.Tyr500His) rs368890003 0.00004
NM_012293.3(PXDN):c.1680+6C>T rs930569592 0.00004
NM_012293.3(PXDN):c.3644C>T (p.Pro1215Leu) rs748447804 0.00004
NM_012293.3(PXDN):c.4342G>A (p.Val1448Met) rs577701184 0.00004
NM_012293.3(PXDN):c.1811C>T (p.Ser604Leu) rs575642508 0.00003
NM_012293.3(PXDN):c.701C>T (p.Ala234Val) rs376902965 0.00003
NM_012293.3(PXDN):c.1075G>A (p.Val359Ile) rs769037467 0.00002
NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr) rs567182921 0.00002
NM_012293.3(PXDN):c.1650C>T (p.Gly550=) rs753678349 0.00001
NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys) rs755097189 0.00001
NM_012293.3(PXDN):c.1885G>A (p.Val629Met) rs770134392 0.00001
NM_012293.3(PXDN):c.2180G>A (p.Arg727Gln) rs748238090 0.00001
NM_012293.3(PXDN):c.2369A>T (p.His790Leu) rs1682956712 0.00001
NM_012293.3(PXDN):c.3292C>T (p.Leu1098Phe) rs757055936 0.00001
NC_000002.11:g.(?_1748008)_(1748227_?)dup
NM_012293.3(PXDN):c.1207G>A (p.Val403Ile)
NM_012293.3(PXDN):c.1248C>A (p.Asn416Lys)
NM_012293.3(PXDN):c.1517A>G (p.Asn506Ser) rs2125425458
NM_012293.3(PXDN):c.1739C>A (p.Thr580Asn)
NM_012293.3(PXDN):c.1964A>G (p.Asn655Ser)
NM_012293.3(PXDN):c.1964A>T (p.Asn655Ile) rs773445177
NM_012293.3(PXDN):c.2044A>C (p.Thr682Pro)
NM_012293.3(PXDN):c.2201A>T (p.Asp734Val)
NM_012293.3(PXDN):c.2214_2215delinsAA (p.His738_Gln739delinsGlnLys) rs2125412247
NM_012293.3(PXDN):c.251G>A (p.Arg84Gln)
NM_012293.3(PXDN):c.2569T>C (p.Cys857Arg) rs1682948313
NM_012293.3(PXDN):c.2591C>G (p.Pro864Arg) rs769171499
NM_012293.3(PXDN):c.2840C>T (p.Pro947Leu)
NM_012293.3(PXDN):c.2854G>T (p.Ala952Ser)
NM_012293.3(PXDN):c.2999C>G (p.Thr1000Arg) rs201077249
NM_012293.3(PXDN):c.3042CTA[1] (p.Tyr1016del)
NM_012293.3(PXDN):c.3169A>G (p.Ile1057Val)
NM_012293.3(PXDN):c.3224C>T (p.Thr1075Met)
NM_012293.3(PXDN):c.3247C>T (p.Arg1083Trp)
NM_012293.3(PXDN):c.32_33delinsTT (p.Arg11Leu) rs2125500995
NM_012293.3(PXDN):c.3366C>G (p.Phe1122Leu)
NM_012293.3(PXDN):c.3469A>G (p.Ile1157Val)
NM_012293.3(PXDN):c.3742A>G (p.Arg1248Gly) rs2125407700
NM_012293.3(PXDN):c.3803C>T (p.Thr1268Met)
NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys) rs367602205
NM_012293.3(PXDN):c.400G>A (p.Ala134Thr)
NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)
NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)
NM_012293.3(PXDN):c.632C>T (p.Ala211Val)
NM_012293.3(PXDN):c.742A>T (p.Ile248Phe)

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