ClinVar Miner

List of variants reported by Paul Sabatier University EA-4555, Paul Sabatier University

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_181711.4(TAMALIN):c.1084G>A (p.Gly362Ser) rs200789033 0.00715
NM_004557.4(NOTCH4):c.2443T>G (p.Cys815Gly) rs150079294 0.00397
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_205860.3(NR5A2):c.884C>T (p.Thr295Met) rs139624279 0.00097
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile) rs200828005 0.00078
NM_173485.6(TSHZ2):c.247T>G (p.Ser83Ala) rs202246859 0.00069
NM_005761.3(PLXNC1):c.3649T>C (p.Cys1217Arg) rs146747324 0.00063
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala) rs200221425 0.00049
NM_001080779.2(MYO1C):c.391C>T (p.Arg131Cys) rs200048542 0.00048
NM_003741.4(CHRD):c.1370C>G (p.Thr457Ser) rs145871696 0.00048
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) rs201620755 0.00029
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met) rs368417828 0.00020
NM_003635.4(NDST2):c.199C>T (p.Arg67Trp) rs141599100 0.00016
NM_025074.7(FRAS1):c.3700G>A (p.Ala1234Thr) rs199940702 0.00015
NM_000264.5(PTCH1):c.3889C>T (p.Arg1297Trp) rs372027952 0.00010
NM_017449.5(EPHB2):c.787G>A (p.Val263Ile) rs150803261 0.00009
NM_003013.3(SFRP2):c.626A>G (p.Asp209Gly) rs770485715 0.00008
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753 0.00007
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_001128205.2(SULF1):c.529G>A (p.Gly177Ser) rs538017286 0.00004
NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys) rs369191459 0.00004
NM_003635.4(NDST2):c.25C>T (p.Arg9Cys) rs368488804 0.00003
NM_025202.4(EFHD1):c.245C>T (p.Thr82Met) rs370357320 0.00003
NM_001291303.3(FAT4):c.7966A>C (p.Lys2656Gln) rs760398912 0.00002
NM_001365792.1(DAB1):c.1075G>A (p.Gly359Arg) rs746363033 0.00002
NM_012476.3(VAX2):c.398C>T (p.Thr133Ile) rs869025255 0.00002
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val) rs765371196 0.00001
NM_000966.6(RARG):c.245C>T (p.Pro82Leu) rs769476878 0.00001
NM_005921.2(MAP3K1):c.1420A>G (p.Ile474Val) rs869025263 0.00001
NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg) rs869025266 0.00001
NM_022369.4(STRA6):c.1313A>G (p.Gln438Arg) rs869025269 0.00001
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) rs755799430 0.00001
NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro) rs869025270
NM_001042413.2(GLIS3):c.2710G>C (p.Gly904Arg) rs150310830
NM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn) rs754847137
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001173464.2(KIF21A):c.2287G>A (p.Val763Met) rs869025264
NM_001243332.2(SEZ6L2):c.323C>T (p.Thr108Ile) rs869025256
NM_001354604.2(MITF):c.736G>A (p.Asp246Asn) rs869025259
NM_001368894.2(PAX6):c.192C>A (p.Asn64Lys) rs727504064
NM_002627.5(PFKP):c.740dup (p.Trp248fs) rs869025258
NM_003183.6(ADAM17):c.847C>T (p.Arg283Cys) rs869025265
NM_004189.4(SOX14):c.723del (p.Ter241TyrextTer?) rs869025252
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu) rs140505250
NM_004625.4(WNT7A):c.232C>T (p.Arg78Cys) rs756214872
NM_006445.4(PRPF8):c.3527C>T (p.Ser1176Phe) rs869025267
NM_015662.3(IFT172):c.5133del (p.Trp1712fs) rs869025254
NM_017617.5(NOTCH1):c.68G>T (p.Arg23Leu) rs869025260
NM_020366.4(RPGRIP1):c.2424C>G (p.Cys808Trp) rs869025257
NM_022369.4(STRA6):c.1735C>G (p.Pro579Ala) rs372931895
NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro) rs144691445
NM_024533.4(CHST5):c.737T>C (p.Ile246Thr) rs869025261
NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter) rs1569119395
NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp) rs1475762618
NM_171999.4(SALL3):c.2254G>A (p.Val752Met) rs760494400
NM_173485.6(TSHZ2):c.1289A>T (p.Gln430Leu) rs778769992
NM_177438.3(DICER1):c.2191G>A (p.Glu731Lys) rs869025262
NM_182894.3(VSX2):c.71dup (p.Ala25fs) rs869025268
NM_183374.3(CYP26C1):c.1243C>G (p.His415Asp) rs869025253

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