ClinVar Miner

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

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Total variants: 20
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HGVS dbSNP
NM_005334.3(HCFC1):c.1047C>G (p.Asn349Lys) rs797044778
NM_005334.3(HCFC1):c.1085-12G>A rs3027893
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.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106
NM_005334.3(HCFC1):c.2857-23CTC[2] rs886044899
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152
NM_005334.3(HCFC1):c.3550G>A (p.Gly1184Arg) rs398124207
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala)
NM_005334.3(HCFC1):c.5664T>G (p.Pro1888=) rs797044687
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428
NM_005334.3(HCFC1):c.713-13C>T rs59607260

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