ClinVar Miner

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

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.175+1G>A rs753069829 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
NM_004560.4(ROR2):c.950A>G (p.Tyr317Cys) rs756479236 0.00001
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) rs2118683614
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) rs2118626297
NM_004560.4(ROR2):c.1565_1569delinsTGTA (p.Arg522fs) rs1587655016
NM_004560.4(ROR2):c.1582C>T (p.Arg528Ter) rs1448877786
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) rs1489361512
NM_004560.4(ROR2):c.1856G>A (p.Arg619His)
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) rs2118616453
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) rs980417569
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) rs767802430
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) rs1434209233
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) rs1587690611
NM_004560.4(ROR2):c.494+4_494+7del rs2118839436
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_004560.4(ROR2):c.640G>C (p.Gly214Arg)
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) rs56302651
NM_004560.4(ROR2):c.854A>G (p.Lys285Arg)
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) rs2118699409

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