ClinVar Miner

List of variants in gene HCFC1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=) rs1329487679 0.00005
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)

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