ClinVar Miner

List of variants reported as uncertain significance for Malan overgrowth syndrome

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001365902.3(NFIX):c.1408G>A (p.Ala470Thr) rs372257657 0.00011
NM_001365902.3(NFIX):c.1078+19C>T rs377622313 0.00006
NM_001365902.3(NFIX):c.818+5G>A rs2016924041 0.00001
NC_000019.10:g.13185527_13190803dup
NC_000019.9:g.(?_13135448)_(13419362_?)dup
NM_001365902.3(NFIX):c.1066G>A (p.Gly356Arg)
NM_001365902.3(NFIX):c.1121C>T (p.Thr374Met)
NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu) rs2013223468
NM_001365902.3(NFIX):c.1154C>T (p.Thr385Met) rs1212531253
NM_001365902.3(NFIX):c.1160C>T (p.Pro387Leu)
NM_001365902.3(NFIX):c.1199T>C (p.Leu400Pro)
NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser) rs1459325680
NM_001365902.3(NFIX):c.1249G>A (p.Gly417Arg)
NM_001365902.3(NFIX):c.1267G>A (p.Gly423Ser)
NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro) rs2018055834
NM_001365902.3(NFIX):c.143T>C (p.Met48Thr) rs1555696484
NM_001365902.3(NFIX):c.230C>G (p.Ala77Gly)
NM_001365902.3(NFIX):c.26A>C (p.Gln9Pro) rs2011445354
NM_001365902.3(NFIX):c.28-16G>A
NM_001365902.3(NFIX):c.28-340GT[6]
NM_001365902.3(NFIX):c.286_300del (p.Thr96_Pro100del) rs2145192209
NM_001365902.3(NFIX):c.309C>G (p.Cys103Trp) rs376885081
NM_001365902.3(NFIX):c.316_324del (p.Ser106_Pro108del)
NM_001365902.3(NFIX):c.335G>T (p.Gly112Val) rs2145192509
NM_001365902.3(NFIX):c.359T>G (p.Leu120Arg)
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg) rs2013253145
NM_001365902.3(NFIX):c.398T>C (p.Met133Thr)
NM_001365902.3(NFIX):c.401T>C (p.Val134Ala)
NM_001365902.3(NFIX):c.422C>G (p.Pro141Arg)
NM_001365902.3(NFIX):c.446G>C (p.Arg149Pro) rs2013261187
NM_001365902.3(NFIX):c.559+18A>T
NM_001365902.3(NFIX):c.599C>T (p.Ala200Val)
NM_001365902.3(NFIX):c.621C>T (p.Asn207=)
NM_001365902.3(NFIX):c.622+4A>G
NM_001365902.3(NFIX):c.622+5G>A
NM_001365902.3(NFIX):c.623G>A (p.Gly208Glu)
NM_001365902.3(NFIX):c.674C>A (p.Thr225Lys)
NM_001365902.3(NFIX):c.67G>C (p.Val23Leu)
NM_001365902.3(NFIX):c.697+3_697+6del
NM_001365902.3(NFIX):c.698-2A>G
NM_001365902.3(NFIX):c.764A>G (p.Asn255Ser)
NM_001365902.3(NFIX):c.791G>T (p.Arg264Leu)
NM_001365902.3(NFIX):c.818+16C>T
NM_001365902.3(NFIX):c.819-3C>T
NM_001365902.3(NFIX):c.889G>A (p.Gly297Arg)
NM_001365902.3(NFIX):c.908C>T (p.Ala303Val)
NM_001365902.3(NFIX):c.988G>A (p.Asp330Asn) rs1215112413

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