ClinVar Miner

List of variants reported as likely pathogenic for X-linked intellectual disability with marfanoid habitus

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)	rs2092303356
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)	rs80338759
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)	rs863223706

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