ClinVar Miner

List of variants reported as likely 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: 17
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HGVS dbSNP gnomAD frequency
NM_004560.4(ROR2):c.-91G>A rs141262722 0.00898
NM_004560.4(ROR2):c.-60G>T rs184095609 0.00434
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00173
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) rs35852786 0.00156
NM_004560.4(ROR2):c.*927C>T rs150568265 0.00138
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_004560.4(ROR2):c.751C>T (p.Leu251=) rs368471121 0.00025
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714 0.00013
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_004560.4(ROR2):c.744G>A (p.Pro248=) rs757948078 0.00009
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_004560.4(ROR2):c.*521G>A rs147339603 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835

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