ClinVar Miner

List of variants in gene combination LOC130004614, SUFU reported as uncertain significance by Ambry Genetics

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile) rs768935165 0.00006
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) rs761921681 0.00005
NM_016169.4(SUFU):c.-3C>T rs1589969701 0.00001
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg) rs1297525468 0.00001
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp) rs948353979 0.00001
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp) rs775491374 0.00001
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp) rs1227379293 0.00001
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser) rs768935165 0.00001
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr) rs978312925 0.00001
NM_016169.4(SUFU):c.49G>C (p.Ala17Pro) rs1332143456 0.00001
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg) rs1489443369 0.00001
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser) rs1207697890 0.00001
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro) rs1564654422 0.00001
NM_016169.4(SUFU):c.83C>T (p.Ser28Leu) rs758001170 0.00001
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala) rs1391787041 0.00001
NM_016169.4(SUFU):c.-2C>G rs1380573429
NM_016169.4(SUFU):c.103C>T (p.His35Tyr) rs2135598180
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser) rs2062288467
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg) rs2135597167
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg) rs2135597167
NM_016169.4(SUFU):c.29C>T (p.Pro10Leu)
NM_016169.4(SUFU):c.32G>T (p.Gly11Val) rs1227379293
NM_016169.4(SUFU):c.35C>A (p.Pro12His) rs2544830107
NM_016169.4(SUFU):c.35C>G (p.Pro12Arg) rs2544830107
NM_016169.4(SUFU):c.35C>T (p.Pro12Leu)
NM_016169.4(SUFU):c.37A>T (p.Thr13Ser) rs1456048322
NM_016169.4(SUFU):c.40G>A (p.Ala14Thr) rs1460606381
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala) rs761921681
NM_016169.4(SUFU):c.43C>T (p.Pro15Ser) rs761921681
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu) rs1690152705
NM_016169.4(SUFU):c.50C>G (p.Ala17Gly) rs12780580
NM_016169.4(SUFU):c.52C>G (p.Pro18Ala) rs1589969896
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu) rs1489443369
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp) rs1589969913
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala) rs936379170
NM_016169.4(SUFU):c.59C>G (p.Pro20Arg) rs2544830551
NM_016169.4(SUFU):c.64G>T (p.Ala22Ser) rs1564654422
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp) rs761240106
NM_016169.4(SUFU):c.65C>T (p.Ala22Val) rs761240106
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala) rs766666529
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala) rs1219870817
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser) rs1219870817
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln) rs754218597
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu) rs754218597
NM_016169.4(SUFU):c.74C>T (p.Ala25Val) rs2062291323
NM_016169.4(SUFU):c.76T>A (p.Phe26Ile) rs1589970016
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr) rs2062291537
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg) rs2062291773
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr) rs1554840836
NM_016169.4(SUFU):c.92C>G (p.Pro31Arg)
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu) rs2135598089
NM_016169.4(SUFU):c.95C>A (p.Pro32Gln)
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu) rs2135598107
NM_016169.4(SUFU):c.98G>A (p.Gly33Glu)
NM_016169.4(SUFU):c.9G>C (p.Glu3Asp)

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