ClinVar Miner

List of variants in gene HCFC1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00035
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812 0.00035
NM_005334.3(HCFC1):c.4943-11C>T rs375388306 0.00035
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496 0.00031
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00015
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) rs370379881 0.00015
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln) rs1273500868 0.00011
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His) rs373327413 0.00008
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=) rs1459988694 0.00005
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) rs1439756712 0.00003
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) rs201491358 0.00003
NM_005334.3(HCFC1):c.3249C>T (p.His1083=) rs782014460 0.00002
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) rs782774910 0.00001
NM_005334.3(HCFC1):c.6074C>G (p.Ser2025Cys) rs1156301874 0.00001
NM_005334.3(HCFC1):c.1102G>T (p.Ala368Ser) rs1557116375
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
NM_005334.3(HCFC1):c.1616G>A (p.Ser539Asn)
NM_005334.3(HCFC1):c.1803+6C>T
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
NM_005334.3(HCFC1):c.1956A>T (p.Thr652=)
NM_005334.3(HCFC1):c.2555G>T (p.Gly852Val) rs2065380619
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
NM_005334.3(HCFC1):c.3518C>A (p.Ala1173Glu) rs782596644
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
NM_005334.3(HCFC1):c.4179GGC[4] (p.Ala1396_Pro1397insAla)
NM_005334.3(HCFC1):c.42T>G (p.Leu14=)
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
NM_005334.3(HCFC1):c.4620C>T (p.Thr1540=)
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) rs1603294733
NM_005334.3(HCFC1):c.4893G>A (p.Gln1631=) rs2065324111
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=) rs2148561246
NM_005334.3(HCFC1):c.5087AGC[5] (p.Gln1699dup) rs782149930
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
NM_005334.3(HCFC1):c.5308G>A (p.Ala1770Thr) rs2148559916
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=) rs782090098
NM_005334.3(HCFC1):c.6046C>T (p.Arg2016Trp) rs2148554043
NM_005334.3(HCFC1):c.6089C>G (p.Ser2030Cys) rs1344145002
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
NM_005334.3(HCFC1):c.979G>A (p.Ala327Thr) rs782659828

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