ClinVar Miner

List of variants reported as benign for autosomal recessive Robinow syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.*16G>A rs2230578 0.73170
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.44353
NM_004560.4(ROR2):c.98-15G>C rs7863557 0.22863
NM_004560.4(ROR2):c.498T>C (p.Asp166=) rs16907720 0.09084
NM_004560.4(ROR2):c.*1016T>G rs1135169 0.05960
NM_004560.4(ROR2):c.*712C>T rs1135150 0.05951
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) rs2230577 0.05836
NM_004560.4(ROR2):c.276C>T (p.Asn92=) rs56227711 0.03061
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_004560.4(ROR2):c.*229C>T rs75004227 0.01251
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954 0.01249
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) rs35764413 0.01175
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_004560.4(ROR2):c.*245A>G rs77664658 0.00775
NM_004560.4(ROR2):c.*736A>G rs73654047 0.00701
NM_004560.4(ROR2):c.*886G>T rs114078962 0.00602
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_004560.4(ROR2):c.1686C>T (p.His562=) rs56048121 0.00232
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174

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