ClinVar Miner

List of variants in gene HCFC1 reported as uncertain significance for Mental retardation 3, X-linked

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Total variants: 11
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HGVS dbSNP
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del)

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