ClinVar Miner

List of variants in gene ROR2 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_004560.4(ROR2):c.1184-1G>T rs2118645585
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) rs1308509155
NM_004560.4(ROR2):c.1353_1360del (p.Met452fs) rs1365019676
NM_004560.4(ROR2):c.1504C>T (p.Gln502Ter) rs121909083
NM_004560.4(ROR2):c.1937_1943del (p.Tyr646fs) rs863223291
NM_004560.4(ROR2):c.2160G>A (p.Trp720Ter) rs121909085
NM_004560.4(ROR2):c.2T>G (p.Met1Arg) rs2118126851
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) rs121909087
NM_004560.4(ROR2):c.550C>T (p.Arg184Cys) rs121909084
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter) rs121909086
NM_004560.4(ROR2):c.622+762_1184-1036del
NM_004560.4(ROR2):c.675del (p.Gln225fs) rs2118702517
NM_004560.4(ROR2):c.79_80del (p.Ser29fs) rs2118125646
NM_004560.4(ROR2):c.990del (p.Thr331fs) rs1837228121

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