ClinVar Miner

List of variants reported as benign for X-linked chondrodysplasia punctata 1

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
NM_000047.3(ARSL):c.549C>T (p.Arg183=) rs5982618 0.03335
NM_000047.3(ARSL):c.157A>G (p.Ile53Val) rs61733256 0.02854
NM_000047.3(ARSL):c.23+687G>A rs61733257 0.02344
NM_000047.3(ARSL):c.24-26C>T rs2302079 0.01922
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_000047.3(ARSL):c.495T>C (p.His165=) rs35274634 0.01303
NM_000047.3(ARSL):c.430+8C>T rs56393981 0.00462
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739 0.00043
NM_000047.3(ARSL):c.-14GA[3] rs200332753
NM_000047.3(ARSL):c.1127-141GA[10] rs34095951
NM_000047.3(ARSL):c.992-219C>G rs211643

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