ClinVar Miner

List of variants in gene CDKN1C reported as pathogenic for Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies

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Total variants: 8
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NM_000076.2(CDKN1C):c.815T>G (p.Ile272Ser) rs515726203
NM_000076.2(CDKN1C):c.820G>A (p.Asp274Asn) rs387907225
NM_000076.2(CDKN1C):c.826T>G (p.Phe276Val) rs387907223
NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser) rs387907224
NM_000076.2(CDKN1C):c.832A>G (p.Lys278Glu) rs387907226
NM_000076.2(CDKN1C):c.836G>C (p.Arg279Pro) rs318240750
NM_000076.2(CDKN1C):c.836G>T (p.Arg279Leu) rs318240750
NM_000076.2(CDKN1C):c.842G>T (p.Arg281Ile) rs886037912

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