ClinVar Miner

List of variants in gene combination LOC130004614, SUFU reported by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.12G>A (p.Leu4=) rs189234140 0.00425
NM_016169.4(SUFU):c.50C>T (p.Ala17Val) rs12780580 0.00023
NM_016169.4(SUFU):c.6G>T (p.Ala2=) rs746555296 0.00021
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.96G>C (p.Pro32=) rs1483435746 0.00003
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser) rs766666529 0.00002
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.26C>T (p.Ala9Val) rs775491374 0.00001
NM_016169.4(SUFU):c.30C>T (p.Pro10=) rs1315277679 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.45C>T (p.Pro15=) rs767543227 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.5C>T (p.Ala2Val) rs1589969719 0.00001
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro) rs1564654422 0.00001
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly) rs761240106 0.00001
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu) rs2062290972 0.00001
NM_016169.4(SUFU):c.84G>T (p.Ser28=) rs376752468 0.00001
NM_016169.4(SUFU):c.96G>A (p.Pro32=) rs1483435746 0.00001
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala) rs1391787041 0.00001
NM_016169.4(SUFU):c.9G>A (p.Glu3=) rs561651427 0.00001
NM_016169.4(SUFU):c.103C>T (p.His35Tyr) rs2135598180
NM_016169.4(SUFU):c.104A>G (p.His35Arg) rs2062292023
NM_016169.4(SUFU):c.105C>G (p.His35Gln)
NM_016169.4(SUFU):c.105C>T (p.His35=) rs756766794
NM_016169.4(SUFU):c.14_33del (p.Arg5fs) rs2544829771
NM_016169.4(SUFU):c.15G>A (p.Arg5=) rs2062288402
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser) rs2062288467
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg) rs2135597134
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly) rs2062288510
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.21C>T (p.Ser7=)
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys) rs769696737
NM_016169.4(SUFU):c.27C>A (p.Ala9=) rs1244167364
NM_016169.4(SUFU):c.27C>T (p.Ala9=) rs1244167364
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala) rs975936230
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser) rs975936230
NM_016169.4(SUFU):c.2T>C (p.Met1Thr)
NM_016169.4(SUFU):c.30C>A (p.Pro10=)
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser) rs1322807658
NM_016169.4(SUFU):c.33C>T (p.Gly11=) rs12780566
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser) rs2544830097
NM_016169.4(SUFU):c.36C>G (p.Pro12=) rs1564654365
NM_016169.4(SUFU):c.36C>T (p.Pro12=) rs1564654365
NM_016169.4(SUFU):c.37_53del (p.Thr13fs) rs2135597189
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs) rs2135597189
NM_016169.4(SUFU):c.42G>A (p.Ala14=) rs1179829804
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1]) rs2062289607
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala) rs761921681
NM_016169.4(SUFU):c.45C>A (p.Pro15=) rs767543227
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala) rs978312925
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu) rs1690152705
NM_016169.4(SUFU):c.48G>C (p.Pro16=) rs1467238395
NM_016169.4(SUFU):c.48G>T (p.Pro16=) rs1467238395
NM_016169.4(SUFU):c.51C>G (p.Ala17=)
NM_016169.4(SUFU):c.51C>T (p.Ala17=) rs1450764224
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr) rs1589969896
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1]) rs1426839991
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu) rs1489443369
NM_016169.4(SUFU):c.53_59del (p.Pro18fs) rs2135597558
NM_016169.4(SUFU):c.53del (p.Pro18fs) rs2135597588
NM_016169.4(SUFU):c.54T>C (p.Pro18=) rs1453186079
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro) rs2544830502
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>T (p.Pro20Leu) rs2544830551
NM_016169.4(SUFU):c.5C>G (p.Ala2Gly)
NM_016169.4(SUFU):c.60G>C (p.Pro20=) rs1589969926
NM_016169.4(SUFU):c.60G>T (p.Pro20=) rs1589969926
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile) rs2544830615
NM_016169.4(SUFU):c.63T>C (p.Thr21=) rs1589969931
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.66C>A (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.66C>G (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.66C>T (p.Ala22=) rs1265496966
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala) rs766666529
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg) rs2062290972
NM_016169.4(SUFU):c.69C>G (p.Pro23=) rs1320688671
NM_016169.4(SUFU):c.69C>T (p.Pro23=) rs1320688671
NM_016169.4(SUFU):c.6G>A (p.Ala2=) rs746555296
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr) rs1219870817
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.71del (p.Pro24fs) rs587776579
NM_016169.4(SUFU):c.71dup (p.Ala25fs) rs587776579
NM_016169.4(SUFU):c.72G>A (p.Pro24=) rs1322344970
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr) rs2135597901
NM_016169.4(SUFU):c.73dup (p.Ala25fs) rs2135597894
NM_016169.4(SUFU):c.74C>T (p.Ala25Val) rs2062291323
NM_016169.4(SUFU):c.78C>T (p.Phe26=) rs2135597954
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr) rs2062291537
NM_016169.4(SUFU):c.80C>T (p.Ala27Val) rs1664857380
NM_016169.4(SUFU):c.81T>G (p.Ala27=) rs2544830882
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala) rs2544830892
NM_016169.4(SUFU):c.82_86del (p.Ser28fs) rs2135597925
NM_016169.4(SUFU):c.84G>C (p.Ser28=) rs376752468
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg) rs2062291773
NM_016169.4(SUFU):c.87C>T (p.Leu29=) rs2135598027
NM_016169.4(SUFU):c.87_88del (p.Phe30fs) rs2544830938
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly) rs757097388
NM_016169.4(SUFU):c.90T>C (p.Phe30=) rs1589970035
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr) rs1554840836
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala) rs1554840836
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser) rs1554840836
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu) rs2135598089
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu) rs2135598107
NM_016169.4(SUFU):c.95del (p.Pro32fs) rs2544831018

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