ClinVar Miner

List of variants in gene NEXMIF reported as uncertain significance for X-linked intellectual disability, Cantagrel type

Included ClinVar conditions (1):
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385 0.00017
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu) rs141738108 0.00014
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr) rs139459124 0.00008
NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser) rs764843382 0.00005
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608 0.00003
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) rs370164571 0.00002
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala) rs747472111 0.00001
NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His) rs201084618 0.00001
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) rs894871556 0.00001
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183 0.00001
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp) rs752027152 0.00001
NM_001008537.3(NEXMIF):c.1021G>A (p.Val341Ile) rs745417882
NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)
NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys) rs966045847
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) rs891017786
NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)
NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
NM_001008537.3(NEXMIF):c.1769A>T (p.Lys590Met)
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.1993C>T (p.His665Tyr)
NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp) rs1556016488
NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)
NM_001008537.3(NEXMIF):c.2457A>T (p.Leu819Phe)
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) rs2080106700
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe) rs1556016358
NM_001008537.3(NEXMIF):c.3507C>A (p.Asn1169Lys)
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe) rs2080097689
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro) rs2080097127
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr) rs2080117655
NM_001008537.3(NEXMIF):c.526A>T (p.Thr176Ser) rs747231678
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val) rs2080115822
NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)

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