ClinVar Miner

List of variants in gene RIPK4 reported as uncertain significance for hereditary epidermal appendage anomaly

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_020639.3(RIPK4):c.*416C>T rs187507566 0.00280
NM_020639.3(RIPK4):c.*1234G>A rs115885677 0.00180
NM_020639.3(RIPK4):c.*73G>A rs188084540 0.00178
NM_020639.3(RIPK4):c.*637G>A rs572218247 0.00137
NM_020639.3(RIPK4):c.267C>T (p.Arg89=) rs55798804 0.00131
NM_020639.3(RIPK4):c.*701A>G rs553704130 0.00130
NM_020639.3(RIPK4):c.832+2T>C rs146341788 0.00129
NM_020639.3(RIPK4):c.2145C>T (p.His715=) rs61739694 0.00090
NM_020639.3(RIPK4):c.2008G>A (p.Gly670Ser) rs148192173 0.00081
NM_020639.3(RIPK4):c.1243G>A (p.Val415Met) rs55645753 0.00073
NM_020639.3(RIPK4):c.*978C>G rs76434022 0.00069
NM_020639.3(RIPK4):c.*1361T>A rs190283912 0.00061
NM_020639.3(RIPK4):c.252G>A (p.Val84=) rs138268998 0.00052
NM_020639.3(RIPK4):c.2277C>T (p.Ala759=) rs201802815 0.00041
NM_020639.3(RIPK4):c.936+6G>A rs199827829 0.00035
NM_020639.3(RIPK4):c.812G>A (p.Arg271Gln) rs144179743 0.00030
NM_020639.3(RIPK4):c.1039G>A (p.Val347Ile) rs150480670 0.00024
NM_020639.3(RIPK4):c.*204G>A rs533596469 0.00023
NM_020639.3(RIPK4):c.*59C>T rs886057088 0.00019
NM_020639.3(RIPK4):c.*1203A>T rs555235524 0.00013
NM_020639.3(RIPK4):c.277G>A (p.Gly93Ser) rs372343704 0.00013
NM_020639.3(RIPK4):c.1779G>A (p.Pro593=) rs202049606 0.00011
NM_020639.3(RIPK4):c.2041G>A (p.Gly681Arg) rs371444612 0.00011
NM_020639.3(RIPK4):c.*1248C>T rs755144689 0.00010
NM_020639.3(RIPK4):c.*60G>A rs886057087 0.00010
NM_020639.3(RIPK4):c.*1117T>C rs941229311 0.00009
NM_020639.3(RIPK4):c.1862G>A (p.Arg621His) rs56056485 0.00009
NM_020639.3(RIPK4):c.959G>A (p.Arg320Gln) rs187728866 0.00009
NM_020639.3(RIPK4):c.*1081C>T rs886057082 0.00006
NM_020639.3(RIPK4):c.*281G>A rs576215477 0.00006
NM_020639.3(RIPK4):c.1344C>T (p.Ala448=) rs577583084 0.00006
NM_020639.3(RIPK4):c.1681G>A (p.Val561Met) rs773070455 0.00006
NM_020639.3(RIPK4):c.474+14C>T rs532592992 0.00006
NM_020639.3(RIPK4):c.*1206A>G rs369347545 0.00005
NM_020639.3(RIPK4):c.2139C>T (p.His713=) rs202070628 0.00005
NM_020639.3(RIPK4):c.504C>T (p.Asn168=) rs200523041 0.00005
NM_020639.3(RIPK4):c.*823A>G rs182698444 0.00004
NM_020639.3(RIPK4):c.1137C>T (p.Ser379=) rs200420912 0.00004
NM_020639.3(RIPK4):c.1164G>A (p.Ser388=) rs535635195 0.00004
NM_020639.3(RIPK4):c.1511A>G (p.Gln504Arg) rs372327761 0.00004
NM_020639.3(RIPK4):c.1561C>T (p.Arg521Trp) rs148559295 0.00003
NM_020639.3(RIPK4):c.*1447A>C rs1356634807 0.00002
NM_020639.3(RIPK4):c.1195+8G>C rs750525932 0.00002
NM_020639.3(RIPK4):c.1453G>A (p.Gly485Ser) rs376154775 0.00002
NM_020639.3(RIPK4):c.1530T>C (p.Phe510=) rs761959722 0.00002
NM_020639.3(RIPK4):c.1995C>T (p.Ala665=) rs758168721 0.00002
NM_020639.3(RIPK4):c.302C>T (p.Thr101Met) rs778210206 0.00002
NM_020639.3(RIPK4):c.488G>A (p.Gly163Asp) rs764278537 0.00002
NM_020639.3(RIPK4):c.779G>A (p.Arg260His) rs549925444 0.00002
NM_020639.3(RIPK4):c.*1376C>T rs938071196 0.00001
NM_020639.3(RIPK4):c.*142G>A rs886057086 0.00001
NM_020639.3(RIPK4):c.*298A>G rs1325503303 0.00001
NM_020639.3(RIPK4):c.*729C>T rs886057084 0.00001
NM_020639.3(RIPK4):c.*72C>T rs1193530619 0.00001
NM_020639.3(RIPK4):c.*824C>T rs1413927849 0.00001
NM_020639.3(RIPK4):c.1106A>G (p.Lys369Arg) rs377595424 0.00001
NM_020639.3(RIPK4):c.1477C>T (p.Arg493Trp) rs745574177 0.00001
NM_020639.3(RIPK4):c.2001C>G (p.Thr667=) rs759122850 0.00001
NM_020639.3(RIPK4):c.271C>A (p.Pro91Thr) rs886057089 0.00001
NM_020639.3(RIPK4):c.377C>T (p.Ala126Val) rs773242499 0.00001
NM_020639.3(RIPK4):c.899A>T (p.Asp300Val) rs1479686520 0.00001
NM_020639.3(RIPK4):c.*1151G>A rs948234291
NM_020639.3(RIPK4):c.*1172T>C rs2061146329
NM_020639.3(RIPK4):c.*1192A>G rs543933391
NM_020639.3(RIPK4):c.*1420T>G rs1194984878
NM_020639.3(RIPK4):c.*161G>A rs536240693
NM_020639.3(RIPK4):c.*173C>T rs1008340022
NM_020639.3(RIPK4):c.*201C>T rs886057085
NM_020639.3(RIPK4):c.*215G>T rs115041500
NM_020639.3(RIPK4):c.*273A>C rs1052236618
NM_020639.3(RIPK4):c.*961G>A rs1601672028
NM_020639.3(RIPK4):c.1079C>T (p.Ser360Phe) rs1470223809
NM_020639.3(RIPK4):c.1193G>T (p.Ser398Ile) rs201219158
NM_020639.3(RIPK4):c.1694T>G (p.Leu565Arg) rs2061153760
NM_020639.3(RIPK4):c.467A>C (p.His156Pro)
NM_020639.3(RIPK4):c.59G>A (p.Gly20Asp) rs2061239545
NM_020639.3(RIPK4):c.755C>T (p.Pro252Leu) rs770860869

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