ClinVar Miner

List of variants reported as likely benign for Brachydactyly type B1; Autosomal recessive Robinow syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_004560.4(ROR2):c.175+17A>G rs372392835 0.00243
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_004560.4(ROR2):c.494+17C>T rs201549038 0.00053
NM_004560.4(ROR2):c.721G>A (p.Ala241Thr) rs141577636 0.00032
NM_004560.4(ROR2):c.1572G>A (p.Glu524=) rs138666116 0.00024
NM_004560.4(ROR2):c.2274G>A (p.Ser758=) rs139915017 0.00016
NM_004560.4(ROR2):c.525G>A (p.Gln175=) rs147616624 0.00016
NM_004560.4(ROR2):c.2613A>C (p.Thr871=) rs751280391 0.00015
NM_004560.4(ROR2):c.1524G>A (p.Thr508=) rs114395148 0.00013
NM_004560.4(ROR2):c.2586C>T (p.His862=) rs56158629 0.00011
NM_004560.4(ROR2):c.97+7T>C rs377341845 0.00010
NM_004560.4(ROR2):c.2604C>T (p.Ser868=) rs369150056 0.00007
NM_004560.4(ROR2):c.485A>G (p.His162Arg) rs569718323 0.00007
NM_004560.4(ROR2):c.1863G>A (p.Val621=) rs778321761 0.00006
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) rs773389306 0.00004
NM_004560.4(ROR2):c.2724C>T (p.Thr908=) rs374824850 0.00004
NM_004560.4(ROR2):c.888C>T (p.Asp296=) rs755825636 0.00004
NM_004560.4(ROR2):c.2451C>T (p.Leu817=) rs200396791 0.00003
NM_004560.4(ROR2):c.2478G>A (p.Pro826=) rs145213893 0.00002
NM_004560.4(ROR2):c.954C>T (p.Asn318=) rs553026289 0.00002
NM_004560.4(ROR2):c.1605C>T (p.Asn535=) rs769352677 0.00001
NM_004560.4(ROR2):c.1104C>T (p.Pro368=) rs200675570
NM_004560.4(ROR2):c.2442G>A (p.Pro814=) rs185808139

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