ClinVar Miner

List of variants studied for Hyaline fibromatosis syndrome by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 146
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HGVS dbSNP
NM_001286780.2(ANTXR2):c.-80+121A>T rs886059665
NM_058172.6(ANTXR2):c.*1085T>C
NM_058172.6(ANTXR2):c.*1099C>T
NM_058172.6(ANTXR2):c.*1113C>T
NM_058172.6(ANTXR2):c.*1114G>A
NM_058172.6(ANTXR2):c.*1126T>A
NM_058172.6(ANTXR2):c.*1133G>A
NM_058172.6(ANTXR2):c.*1136C>T
NM_058172.6(ANTXR2):c.*1295T>C
NM_058172.6(ANTXR2):c.*130A>G
NM_058172.6(ANTXR2):c.*1397G>A
NM_058172.6(ANTXR2):c.*1476G>A
NM_058172.6(ANTXR2):c.*1501G>T
NM_058172.6(ANTXR2):c.*1521A>G
NM_058172.6(ANTXR2):c.*1558C>T
NM_058172.6(ANTXR2):c.*1563A>G
NM_058172.6(ANTXR2):c.*1663G>A
NM_058172.6(ANTXR2):c.*1671T>G
NM_058172.6(ANTXR2):c.*1682T>C
NM_058172.6(ANTXR2):c.*1795G>A
NM_058172.6(ANTXR2):c.*2187A>C
NM_058172.6(ANTXR2):c.*2225A>G
NM_058172.6(ANTXR2):c.*2226A>T
NM_058172.6(ANTXR2):c.*2245G>A
NM_058172.6(ANTXR2):c.*2256T>C
NM_058172.6(ANTXR2):c.*2303A>C
NM_058172.6(ANTXR2):c.*2306A>G
NM_058172.6(ANTXR2):c.*2429G>A
NM_058172.6(ANTXR2):c.*242A>G
NM_058172.6(ANTXR2):c.*2446C>T
NM_058172.6(ANTXR2):c.*245A>G
NM_058172.6(ANTXR2):c.*2550T>C
NM_058172.6(ANTXR2):c.*263C>T
NM_058172.6(ANTXR2):c.*2666A>C
NM_058172.6(ANTXR2):c.*2839G>T
NM_058172.6(ANTXR2):c.*2888G>A
NM_058172.6(ANTXR2):c.*2899A>G
NM_058172.6(ANTXR2):c.*28C>T
NM_058172.6(ANTXR2):c.*2959C>G
NM_058172.6(ANTXR2):c.*3105A>G
NM_058172.6(ANTXR2):c.*3212T>C
NM_058172.6(ANTXR2):c.*336C>T
NM_058172.6(ANTXR2):c.*3371C>A
NM_058172.6(ANTXR2):c.*3468A>G
NM_058172.6(ANTXR2):c.*3473A>G
NM_058172.6(ANTXR2):c.*3533G>A
NM_058172.6(ANTXR2):c.*3544A>G
NM_058172.6(ANTXR2):c.*3597T>G
NM_058172.6(ANTXR2):c.*3602A>G
NM_058172.6(ANTXR2):c.*3606A>G
NM_058172.6(ANTXR2):c.*3649T>A
NM_058172.6(ANTXR2):c.*3695T>C
NM_058172.6(ANTXR2):c.*3707G>A
NM_058172.6(ANTXR2):c.*380T>C
NM_058172.6(ANTXR2):c.*3843G>A
NM_058172.6(ANTXR2):c.*3888T>G
NM_058172.6(ANTXR2):c.*3902C>T
NM_058172.6(ANTXR2):c.*3953G>A
NM_058172.6(ANTXR2):c.*4056T>A
NM_058172.6(ANTXR2):c.*4058A>T
NM_058172.6(ANTXR2):c.*4194C>T
NM_058172.6(ANTXR2):c.*4201A>G
NM_058172.6(ANTXR2):c.*4223T>C
NM_058172.6(ANTXR2):c.*4264T>A
NM_058172.6(ANTXR2):c.*4272C>T
NM_058172.6(ANTXR2):c.*4332G>A
NM_058172.6(ANTXR2):c.*4462A>G
NM_058172.6(ANTXR2):c.*4504C>T
NM_058172.6(ANTXR2):c.*4576A>G
NM_058172.6(ANTXR2):c.*4630A>T
NM_058172.6(ANTXR2):c.*4668T>C
NM_058172.6(ANTXR2):c.*4703T>A
NM_058172.6(ANTXR2):c.*4712C>T
NM_058172.6(ANTXR2):c.*4847C>T
NM_058172.6(ANTXR2):c.*4856C>T
NM_058172.6(ANTXR2):c.*4917G>A
NM_058172.6(ANTXR2):c.*5223G>T
NM_058172.6(ANTXR2):c.*5266A>C
NM_058172.6(ANTXR2):c.*5310T>G
NM_058172.6(ANTXR2):c.*5358A>G
NM_058172.6(ANTXR2):c.*5413A>G
NM_058172.6(ANTXR2):c.*5425G>A
NM_058172.6(ANTXR2):c.*5524C>T
NM_058172.6(ANTXR2):c.*5525G>A
NM_058172.6(ANTXR2):c.*5527A>G
NM_058172.6(ANTXR2):c.*5547T>C
NM_058172.6(ANTXR2):c.*559G>A
NM_058172.6(ANTXR2):c.*5602C>G
NM_058172.6(ANTXR2):c.*5761A>G
NM_058172.6(ANTXR2):c.*677C>T
NM_058172.6(ANTXR2):c.*702A>C
NM_058172.6(ANTXR2):c.*703C>T
NM_058172.6(ANTXR2):c.*728G>A
NM_058172.6(ANTXR2):c.*752C>G
NM_058172.6(ANTXR2):c.*784T>G
NM_058172.6(ANTXR2):c.*785T>C
NM_058172.6(ANTXR2):c.*947T>C
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C
NM_058172.6(ANTXR2):c.-230_-229del rs80314910
NM_058172.6(ANTXR2):c.-261G>T
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A
NM_058172.6(ANTXR2):c.-319C>G rs11557908
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410G>A rs72869605
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.-441C>T rs778888047
NM_058172.6(ANTXR2):c.-442C>G rs886059663
NM_058172.6(ANTXR2):c.-455C>T rs886059664
NM_058172.6(ANTXR2):c.-505G>C rs780730755
NM_058172.6(ANTXR2):c.-590A>T rs142313419
NM_058172.6(ANTXR2):c.-5G>A rs765908500
NM_058172.6(ANTXR2):c.-634C>T
NM_058172.6(ANTXR2):c.-82C>A rs13140055
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)
NM_058172.6(ANTXR2):c.1179+3T>C
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala)
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr)
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp)
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr)
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055
NM_058172.6(ANTXR2):c.225-4G>A rs141355689
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=) rs184413338
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646
NM_058172.6(ANTXR2):c.378+8A>C rs4594664
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val)
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_058172.6(ANTXR2):c.637-10dup rs373672335
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile)
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226
NM_058172.6(ANTXR2):c.796+3A>C
NM_058172.6(ANTXR2):c.796+9C>T rs113482034
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525
NM_058172.6(ANTXR2):c.945+7A>G
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841

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