ClinVar Miner

List of variants in gene HCFC1 reported by Ambry Genetics

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189 0.00012
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446 0.00007
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) rs782354655 0.00005
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) rs1439756712 0.00003
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) rs1252960661 0.00003
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.4381G>C (p.Gly1461Arg) rs1371640107 0.00002
NM_005334.3(HCFC1):c.748G>A (p.Val250Met) rs782385961 0.00002
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277 0.00001
NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile) rs782370052 0.00001
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr) rs1557112927 0.00001
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala) rs782172902 0.00001
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448 0.00001
NM_005334.3(HCFC1):c.1232C>T (p.Ser411Phe)
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
NM_005334.3(HCFC1):c.22_24del (p.Ala8del)
NM_005334.3(HCFC1):c.3238T>C (p.Cys1080Arg)
NM_005334.3(HCFC1):c.3464C>T (p.Ala1155Val)
NM_005334.3(HCFC1):c.3485C>T (p.Ser1162Phe)
NM_005334.3(HCFC1):c.349C>T (p.Arg117Trp)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3646A>T (p.Ser1216Cys) rs782337070
NM_005334.3(HCFC1):c.3685C>T (p.Pro1229Ser)
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
NM_005334.3(HCFC1):c.3829G>A (p.Ala1277Thr) rs1557113917
NM_005334.3(HCFC1):c.4036G>A (p.Glu1346Lys)
NM_005334.3(HCFC1):c.4550G>T (p.Arg1517Leu)
NM_005334.3(HCFC1):c.4639G>T (p.Val1547Leu)
NM_005334.3(HCFC1):c.4657G>A (p.Gly1553Arg)
NM_005334.3(HCFC1):c.4658G>A (p.Gly1553Glu)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) rs1603294733
NM_005334.3(HCFC1):c.4759C>T (p.Leu1587Phe) rs1557112939
NM_005334.3(HCFC1):c.4907A>G (p.Gln1636Arg)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.5114C>T (p.Ala1705Val)
NM_005334.3(HCFC1):c.5323C>G (p.Leu1775Val)
NM_005334.3(HCFC1):c.5392C>A (p.Pro1798Thr)
NM_005334.3(HCFC1):c.5477C>T (p.Thr1826Ile)
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg) rs797044886

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