List of variants in gene HCFC1 reported as uncertain significance for homocystinuria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 114

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HGVS	dbSNP	gnomAD frequency
NM_005334.3(HCFC1):c.905-3C>T	rs200367055	0.00019
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)	rs782727601	0.00010
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)	rs373327413	0.00008
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)	rs782310209	0.00005
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)	rs782155408	0.00004
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.3731G>A (p.Arg1244His)	rs782013532	0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	rs371874117	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.3611G>A (p.Arg1204His)	rs782325660	0.00002
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)	rs782399563	0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)	rs782138046	0.00002
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)	rs782560491	0.00002
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)	rs1002620023	0.00002
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)	rs781937365	0.00001
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)	rs781971515	0.00001
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)	rs782235304	0.00001
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)	rs1043389387	0.00001
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)	rs1557113936	0.00001
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)	rs1557113656	0.00001
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)	rs781783048	0.00001
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)	rs1004412459	0.00001
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)	rs782122807	0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)	rs935130398	0.00001
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)	rs1557112927	0.00001
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)	rs372010656	0.00001
NM_005334.3(HCFC1):c.503+6G>A	rs1048267564	0.00001
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)	rs1360396448	0.00001
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)	rs1557112412	0.00001
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)	rs2065417308
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)	rs2148589382
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)	rs782132752
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)	rs2065413556
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)	rs868948937
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)	rs782364666
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)	rs1557115869
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
NM_005334.3(HCFC1):c.2028+6T>C
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	rs397515486
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)	rs2065388763
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
NM_005334.3(HCFC1):c.2353+6G>A
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)	rs1131691855
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)	rs949004802
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)	rs2065362050
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)	rs2065360852
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)	rs2065360777
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)	rs2065355018
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)	rs2065352881
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)	rs2148571129
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)	rs2148569217
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)	rs2065343736
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)	rs1277991321
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)	rs782652831
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)	rs1603294733
NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)	rs2148563099
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	rs1275942023
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)	rs2065317868
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)	rs2148561074
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)	rs1376359622
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)	rs782384589
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)	rs2065309711
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)	rs2065303644
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)	rs2148553327
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
NM_005334.3(HCFC1):c.712+6C>T	rs1165322624
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)	rs2065524568
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)

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