ClinVar Miner

List of variants reported as pathogenic by Institute of Human Genetics, University of Wuerzburg

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ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635 0.00039
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter) rs781745214 0.00001
NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del
NM_000051.4(ATM):c.2441del (p.Asp814fs) rs1565400045
NM_000051.4(ATM):c.5696dup (p.Cys1899fs) rs1565486028
NM_000059.4(BRCA2):c.4284del (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.6596_6597delinsA (p.Thr2199fs) rs1593909229
NM_000133.4(F9):c.241_242del (p.Asn80_Thr81insTer) rs1603264246
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000161.3(GCH1):c.126dup (p.Glu43fs) rs1566687487
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs) rs886044911
NM_000179.3(MSH6):c.952_962del (p.Glu318fs) rs1064793185
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs) rs1114167435
NM_000251.3(MSH2):c.2382del (p.Pro795fs) rs1573574436
NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter) rs2095885868
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000314.8(PTEN):c.249C>A (p.Cys83Ter) rs1554897879
NM_000314.8(PTEN):c.672del (p.Tyr225fs) rs1564566774
NM_000426.4(LAMA2):c.2834del (p.Gly945fs) rs2114432671
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter) rs1567155145
NM_001009944.3(PKD1):c.7818dup (p.His2607fs) rs1555452653
NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter) rs1597715477
NM_001042492.3(NF1):c.84del (p.Asn29fs) rs1555604877
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs) rs1057516051
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001197104.2(KMT2A):c.766dup (p.Ile256fs) rs1565278132
NM_001267550.2(TTN):c.59848C>T (p.Arg19950Ter) rs1559598775
NM_001267550.2(TTN):c.68022del (p.Glu22675fs) rs2047085522
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.81341dup (p.Asn27115fs) rs1575663327
NM_001267550.2(TTN):c.85519dup (p.Met28507fs) rs1575614351
NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter) rs1591901585
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) rs1256371424
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) rs1597597437
NM_003673.4(TCAP):c.90_91del (p.Ser31fs) rs1555606976
NM_004006.3(DMD):c.1150-14_1158dup
NM_004006.3(DMD):c.2949+1G>T rs1557374482
NM_004006.3(DMD):c.3004dup (p.Thr1002fs)
NM_004006.3(DMD):c.494A>T (p.Asp165Val) rs1557052542
NM_004006.3(DMD):c.6139C>T (p.Gln2047Ter) rs1057516028
NM_004006.3(DMD):c.6544C>T (p.Gln2182Ter) rs1557038061
NM_004006.3(DMD):c.7580T>A (p.Leu2527Ter) rs1603452200
NM_004006.3(DMD):c.9110del (p.Gln3037fs)
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
NM_012210.4(TRIM32):c.1365_1366dup (p.Thr456fs) rs886044913
NM_014363.6(SACS):c.2775_2776del (p.Phe927fs) rs1593133607
NM_015295.3(SMCHD1):c.1520del (p.Asn507fs)
NM_015295.3(SMCHD1):c.3660_3661del (p.Gly1221fs) rs2075396572
NM_015295.3(SMCHD1):c.4346+1G>T rs2143632512
NM_015295.3(SMCHD1):c.4459C>T (p.Gln1487Ter) rs1329504858
NM_024675.4(PALB2):c.1937_1938dup (p.His647fs) rs1555460584
NM_025137.4(SPG11):c.4339_4346del (p.Gln1447fs)

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