ClinVar Miner

List of variants reported as likely benign for bone disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.17763
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.15561
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12576
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12459
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00381
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00363
NM_001378414.1(HDAC4):c.1809G>A (p.Glu603=) rs148813865 0.00231
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00228
NM_001378414.1(HDAC4):c.684G>A (p.Pro228=) rs144387989 0.00180
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_000047.3(ARSL):c.467G>A (p.Ser156Asn) rs41310272 0.00021
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_006031.6(PCNT):c.467_505del (p.His156_Gln168del) rs587784306

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