ClinVar Miner

List of variants in gene HCFC1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00019
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757 0.00012
NM_005334.3(HCFC1):c.1084+8C>T rs367698803 0.00006
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511 0.00004
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045 0.00003
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724 0.00003
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935 0.00002
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163 0.00001
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=) rs2065298662 0.00001
NM_005334.3(HCFC1):c.3337G>C (p.Glu1113Gln) rs782066012
NM_005334.3(HCFC1):c.4594G>A (p.Ala1532Thr) rs782665288
NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=) rs1557112957
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala) rs797045609

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