ClinVar Miner

List of variants in gene combination LOC105369149, SBF2 reported as uncertain significance for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
NM_030962.4(SBF2):c.4805A>G (p.Lys1602Arg) rs147772705 0.00048
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=) rs200784979 0.00048
NM_030962.4(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522 0.00048
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_030962.4(SBF2):c.5010C>G (p.Asp1670Glu) rs142672124 0.00013
NM_030962.4(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255 0.00011
NM_030962.4(SBF2):c.5074T>C (p.Ser1692Pro) rs776642521 0.00007
NM_030962.4(SBF2):c.4588A>G (p.Lys1530Glu) rs746575779 0.00002
NM_030962.4(SBF2):c.4852C>T (p.Arg1618Trp) rs200696363 0.00002
NM_030962.4(SBF2):c.4853G>A (p.Arg1618Gln) rs770439158 0.00002
NM_030962.4(SBF2):c.4932T>C (p.Ser1644=) rs757095964 0.00002
NM_030962.4(SBF2):c.4960A>C (p.Asn1654His) rs927212697 0.00002
NM_030962.4(SBF2):c.5017G>A (p.Glu1673Lys) rs764823510 0.00002
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His) rs769919130 0.00002
NM_030962.4(SBF2):c.5231+13A>G rs1242027664 0.00002
NM_030962.4(SBF2):c.5410A>G (p.Met1804Val) rs755264093 0.00002
NM_030962.4(SBF2):c.4640G>A (p.Arg1547Lys) rs200338241 0.00001
NM_030962.4(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105 0.00001
NM_030962.4(SBF2):c.4733A>G (p.Lys1578Arg) rs775360425 0.00001
NM_030962.4(SBF2):c.4808A>G (p.His1603Arg) rs757498268 0.00001
NM_030962.4(SBF2):c.4931G>A (p.Ser1644Asn) rs754078134 0.00001
NM_030962.4(SBF2):c.4932+5G>A rs764275849 0.00001
NM_030962.4(SBF2):c.4970C>T (p.Pro1657Leu) rs771021009 0.00001
NM_030962.4(SBF2):c.5005G>A (p.Val1669Met) rs757185849 0.00001
NM_030962.4(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259 0.00001
NM_030962.4(SBF2):c.5137G>C (p.Glu1713Gln) rs1852290948 0.00001
NM_030962.4(SBF2):c.5150C>T (p.Ser1717Phe) rs1428957767 0.00001
NM_030962.4(SBF2):c.5168A>G (p.Asn1723Ser) rs752274961 0.00001
NM_030962.4(SBF2):c.5180G>A (p.Arg1727Gln) rs765612411 0.00001
NM_030962.4(SBF2):c.5232-7C>A rs752774091 0.00001
NM_030962.4(SBF2):c.5245A>G (p.Thr1749Ala) rs1288312315 0.00001
NM_030962.4(SBF2):c.5288G>A (p.Arg1763His) rs770839463 0.00001
NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys) rs938347502 0.00001
NM_030962.4(SBF2):c.5324G>A (p.Arg1775His) rs574665066 0.00001
NM_030962.4(SBF2):c.5330A>G (p.Tyr1777Cys) rs185926762 0.00001
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val) rs746542104 0.00001
NM_030962.4(SBF2):c.5399C>T (p.Ala1800Val) rs745534248 0.00001
NM_030962.4(SBF2):c.4592G>A (p.Gly1531Glu)
NM_030962.4(SBF2):c.4603G>A (p.Ala1535Thr) rs546392558
NM_030962.4(SBF2):c.4664T>G (p.Phe1555Cys) rs1852677610
NM_030962.4(SBF2):c.4675T>G (p.Leu1559Val)
NM_030962.4(SBF2):c.4681T>G (p.Ser1561Ala) rs1453584782
NM_030962.4(SBF2):c.4698+6G>A rs1852674371
NM_030962.4(SBF2):c.4709C>G (p.Pro1570Arg)
NM_030962.4(SBF2):c.4712A>T (p.Asn1571Ile) rs371960255
NM_030962.4(SBF2):c.4723T>C (p.Ser1575Pro)
NM_030962.4(SBF2):c.4735A>C (p.Lys1579Gln) rs2133858789
NM_030962.4(SBF2):c.4785C>G (p.Asp1595Glu)
NM_030962.4(SBF2):c.4799C>G (p.Thr1600Ser) rs183468503
NM_030962.4(SBF2):c.4817C>G (p.Ser1606Cys)
NM_030962.4(SBF2):c.4825T>G (p.Ser1609Ala) rs1852579303
NM_030962.4(SBF2):c.4840G>A (p.Glu1614Lys) rs1852578314
NM_030962.4(SBF2):c.4850C>G (p.Pro1617Arg)
NM_030962.4(SBF2):c.4890T>A (p.Asp1630Glu) rs963997810
NM_030962.4(SBF2):c.4898G>T (p.Cys1633Phe)
NM_030962.4(SBF2):c.4913C>G (p.Ala1638Gly) rs758932167
NM_030962.4(SBF2):c.4919C>A (p.Thr1640Asn) rs1284170057
NM_030962.4(SBF2):c.4967C>T (p.Ala1656Val) rs139634638
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=) rs150598413
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=) rs150598413
NM_030962.4(SBF2):c.5010C>A (p.Asp1670Glu) rs142672124
NM_030962.4(SBF2):c.5011C>T (p.Leu1671Phe)
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832
NM_030962.4(SBF2):c.5024C>G (p.Pro1675Arg) rs1852460091
NM_030962.4(SBF2):c.5030C>T (p.Thr1677Ile) rs760027294
NM_030962.4(SBF2):c.5038-11_5038-8del rs1189608485
NM_030962.4(SBF2):c.5077A>T (p.Thr1693Ser) rs935208245
NM_030962.4(SBF2):c.5102G>A (p.Arg1701Lys) rs914679014
NM_030962.4(SBF2):c.5135G>A (p.Gly1712Glu) rs757214892
NM_030962.4(SBF2):c.5135G>T (p.Gly1712Val) rs757214892
NM_030962.4(SBF2):c.5149T>C (p.Ser1717Pro)
NM_030962.4(SBF2):c.5167A>G (p.Asn1723Asp)
NM_030962.4(SBF2):c.5179C>G (p.Arg1727Gly) rs750756174
NM_030962.4(SBF2):c.5192C>T (p.Thr1731Met)
NM_030962.4(SBF2):c.5198A>G (p.Tyr1733Cys) rs1334739235
NM_030962.4(SBF2):c.5200A>C (p.Ser1734Arg) rs1411871638
NM_030962.4(SBF2):c.5204A>T (p.Gln1735Leu) rs2133849923
NM_030962.4(SBF2):c.5205G>C (p.Gln1735His) rs878855131
NM_030962.4(SBF2):c.5209A>T (p.Thr1737Ser) rs1564850356
NM_030962.4(SBF2):c.5213C>G (p.Ser1738Cys) rs2133849900
NM_030962.4(SBF2):c.5249T>C (p.Leu1750Pro) rs1852233208
NM_030962.4(SBF2):c.5258G>A (p.Arg1753Lys) rs1852232500
NM_030962.4(SBF2):c.5285C>T (p.Pro1762Leu) rs1051248230
NM_030962.4(SBF2):c.5290del (p.Trp1764fs)
NM_030962.4(SBF2):c.5291G>C (p.Trp1764Ser)
NM_030962.4(SBF2):c.5296G>A (p.Val1766Ile) rs886048779
NM_030962.4(SBF2):c.5354G>A (p.Cys1785Tyr)
NM_030962.4(SBF2):c.5375C>G (p.Ala1792Gly) rs1554897834
NM_030962.4(SBF2):c.5375C>T (p.Ala1792Val) rs1554897834
NM_030962.4(SBF2):c.5398G>A (p.Ala1800Thr) rs1852008750
NM_030962.4(SBF2):c.5399C>A (p.Ala1800Asp)
NM_030962.4(SBF2):c.5435A>G (p.Asp1812Gly) rs1852006389
NM_030962.4(SBF2):c.5437A>G (p.Lys1813Glu) rs1590068012
NM_030962.4(SBF2):c.5438A>C (p.Lys1813Thr) rs1852006110
NM_030962.4(SBF2):c.5440G>T (p.Ala1814Ser) rs1852005955
NM_030962.4(SBF2):c.5451+3_5451+6dup rs1428808794

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