ClinVar Miner

List of variants in gene HCFC1 reported as uncertain significance

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Total variants: 58
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HGVS dbSNP
NM_005334.3(HCFC1):c.1047C>G (p.Asn349Lys) rs797044778
NM_005334.3(HCFC1):c.1084+8C>T rs367698803
NM_005334.3(HCFC1):c.1102G>T (p.Ala368Ser) rs1557116375
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.1472G>T (p.Gly491Val) rs1057524819
NM_005334.3(HCFC1):c.1741G>A (p.Ala581Thr) rs886044862
NM_005334.3(HCFC1):c.2029-7_2029-6insTAA rs1383257179
NM_005334.3(HCFC1):c.2144C>T (p.Pro715Leu) rs1557115452
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2584G>A (p.Val862Ile) rs1057524502
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163
NM_005334.3(HCFC1):c.2857-23CTC[2] rs886044899
NM_005334.3(HCFC1):c.2992G>A (p.Asp998Asn) rs1557114563
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751
NM_005334.3(HCFC1):c.3344G>T (p.Gly1115Val) rs370928756
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3550G>A (p.Gly1184Arg) rs398124207
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
NM_005334.3(HCFC1):c.3829G>A (p.Ala1277Thr) rs1557113917
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446
NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile) rs782370052
NM_005334.3(HCFC1):c.4086C>T (p.Thr1362=) rs1388599232
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) rs782407440
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4594G>A (p.Ala1532Thr) rs782665288
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935
NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=) rs1557112957
NM_005334.3(HCFC1):c.4759C>T (p.Leu1587Phe) rs1557112939
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) rs1422949741
NM_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys) rs868930050
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) rs782467999
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448
NM_005334.3(HCFC1):c.5374G>T (p.Gly1792Cys) rs878853049
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del)
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala) rs797045609
NM_005334.3(HCFC1):c.5664T>G (p.Pro1888=) rs797044687
NM_005334.3(HCFC1):c.5997G>T (p.Trp1999Cys) rs1064793145
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428
NM_005334.3(HCFC1):c.905-3C>T rs200367055
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511

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