List of variants reported as uncertain significance for Chondrodysplasia punctata 2 X-linked dominant; MEND syndrome

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006579.3(EBP):c.188G>A (p.Arg63Gln)	rs782638360	0.00004
NM_006579.3(EBP):c.414C>T (p.Ile138=)	rs976210101	0.00001
NM_006579.3(EBP):c.175G>A (p.Gly59Arg)	rs782558322
NM_006579.3(EBP):c.185G>A (p.Arg62Gln)
NM_006579.3(EBP):c.193T>C (p.Ser65Pro)
NM_006579.3(EBP):c.250G>A (p.Val84Ile)
NM_006579.3(EBP):c.25C>T (p.His9Tyr)
NM_006579.3(EBP):c.27C>G (p.His9Gln)
NM_006579.3(EBP):c.283G>A (p.Ala95Thr)	rs2147154752
NM_006579.3(EBP):c.347A>G (p.Asn116Ser)
NM_006579.3(EBP):c.50G>C (p.Arg17Thr)
NM_006579.3(EBP):c.604G>C (p.Val202Leu)
NM_006579.3(EBP):c.626A>C (p.Lys209Thr)

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