ClinVar Miner

List of variants in gene HCFC1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 8
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HGVS dbSNP
NM_005334.3(HCFC1):c.1047C>G (p.Asn349Lys) rs797044778
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206
NM_005334.3(HCFC1):c.1741G>A (p.Ala581Thr) rs886044862
NM_005334.3(HCFC1):c.2857-23CTC[2] rs886044899
NM_005334.3(HCFC1):c.3550G>A (p.Gly1184Arg) rs398124207
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala)
NM_005334.3(HCFC1):c.5664T>G (p.Pro1888=) rs797044687
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428

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