ClinVar Miner

List of variants reported as likely pathogenic by Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
NM_001277115.2(DNAH11):c.3426-1G>A rs774855011 0.00005
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_000044.6(AR):c.1873A>G (p.Met625Val)
NM_000044.6(AR):c.2079C>G (p.Asn693Lys)
NM_000044.6(AR):c.2449+1G>A
NM_000044.6(AR):c.35del (p.Pro12fs)
NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter)
NM_000094.4(COL7A1):c.4350_4351del (p.Glu1451fs)
NM_000094.4(COL7A1):c.4667del (p.Lys1556fs)
NM_000094.4(COL7A1):c.4782+1G>A
NM_000094.4(COL7A1):c.5053-5_5055dup
NM_000094.4(COL7A1):c.6209G>T (p.Gly2070Val)
NM_000094.4(COL7A1):c.7547dup (p.Gly2517_Asp2518insTer) rs2107642953
NM_000132.4(F8):c.476T>A (p.Val159Asp)
NM_000162.5(GCK):c.677T>C (p.Val226Ala) rs193922319
NM_000168.6(GLI3):c.1325_1328dup (p.Ser445fs)
NM_000168.6(GLI3):c.2876_2880dup (p.Gly961fs)
NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu)
NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)
NM_000197.2(HSD17B3):c.111_118del (p.Lys37fs)
NM_000213.5(ITGB4):c.2550+1G>A rs545619665
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter)
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.387+1G>C
NM_000257.4(MYH7):c.1370T>A (p.Ile457Lys)
NM_000257.4(MYH7):c.1921G>A (p.Gly641Ser) rs1892730026
NM_000264.5(PTCH1):c.3358del (p.Glu1120fs)
NM_000297.4(PKD2):c.2351_2354del (p.Lys784fs)
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu) rs137854542
NM_000308.4(CTSA):c.948+1G>A
NM_000330.4(RS1):c.326+1111del
NM_000335.5(SCN5A):c.4414T>A (p.Phe1472Ile)
NM_000368.5(TSC1):c.2271_2280del (p.Glu757fs)
NM_000372.5(TYR):c.1045_1046insAT (p.Ser349fs)
NM_000424.4(KRT5):c.1398G>T (p.Glu466Asp)
NM_000451.4(SHOX):c.419del (p.His140fs)
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter) rs2128999627
NM_000530.8(MPZ):c.562del (p.Ala188fs)
NM_000531.6(OTC):c.502C>T (p.His168Tyr)
NM_000548.5(TSC2):c.1090_1099del (p.Ile364fs)
NM_000548.5(TSC2):c.1361+2T>C rs397515301
NM_000548.5(TSC2):c.2126T>G (p.Val709Gly)
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.2724dup (p.Val909fs)
NM_000548.5(TSC2):c.875_876insTCGCGCCCCTGCT (p.Gly294fs)
NM_001009944.3(PKD1):c.7903G>T (p.Glu2635Ter) rs778979740
NM_001042492.3(NF1):c.4577+2T>G rs1597747184
NM_001077653.2(TBX20):c.654+1G>C
NM_001110219.3(GJB6):c.148G>C (p.Asp50His) rs1869351345
NM_001122630.2(CDKN1C):c.19del (p.Arg7fs)
NM_001127392.3(MYRF):c.1318_1319delinsA (p.Ala440fs)
NM_001127898.4(CLCN5):c.746G>T (p.Gly249Val)
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs) rs1555443581
NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs)
NM_001277115.2(DNAH11):c.11615G>A (p.Trp3872Ter)
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
NM_001282717.2(STAG3):c.3550G>T (p.Glu1184Ter)
NM_001291867.2(NHS):c.1108+1G>A
NM_001347721.2(DYRK1A):c.1072del
NM_001355436.2(SPTB):c.545G>A (p.Trp182Ter)
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)
NM_001367721.1(CASK):c.173-1G>A
NM_001372044.2(SHANK3):c.3286del (p.Glu1096fs)
NM_001372044.2:c.288+1G>A
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter) rs1064793482
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
NM_002480.3(PPP1R12A):c.508C>T (p.Arg170Ter)
NM_003126.4(SPTA1):c.5581del (p.His1861fs)
NM_003126.4(SPTA1):c.6331del (p.Ala2111fs)
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)
NM_003722.5(TP63):c.1963C>T (p.Arg655Ter)
NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) rs1597795170
NM_004247.4(EFTUD2):c.2126G>A (p.Trp709Ter)
NM_004247.4(EFTUD2):c.719_720del (p.Glu240fs)
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter)
NM_004608.4(TBX6):c.1309T>C (p.Ter437Arg)
NM_004817.4(TJP2):c.2363A>T (p.His788Leu)
NM_005094.4(SLC27A4):c.1628-1G>A
NM_005094.4(SLC27A4):c.839A>T (p.Asp280Val)
NM_005120.3(MED12):c.6175C>T (p.Gln2059Ter)
NM_005121.3(MED13):c.2503C>T (p.Pro835Ser)
NM_005157.6(ABL1):c.1088A>C (p.Asp363Ala)
NM_005378.6(MYCN):c.1037del (p.Pro346fs)
NM_005378.6(MYCN):c.134del (p.Pro45fs)
NM_005585.5(SMAD6):c.1440dup (p.Ile481fs)
NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)
NM_007055.4(POLR3A):c.2616+1G>A
NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)
NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)
NM_014795.4(ZEB2):c.564del (p.Pro189fs)
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
NM_015910.7(WDPCP):c.2050_2053del (p.Gln684fs)
NM_015910.7(WDPCP):c.633+2T>C rs765356177
NM_016032.4(ZDHHC9):c.167+1G>A
NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter)
NM_017780.4(CHD7):c.7504dup (p.Leu2502fs)
NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)
NM_017951.5(SMPD4):c.202dup (p.Leu68fs)
NM_017951.5(SMPD4):c.2242_2260del (p.Ser748fs)
NM_018671.5(UNC45A):c.119C>A (p.Ala40Asp) rs2151353536
NM_018671.5(UNC45A):c.213+1G>C
NM_021005.4(NR2F2):c.1164dup (p.Lys389Ter)
NM_021005.4(NR2F2):c.684del (p.Asn229fs)
NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter)
NM_022455.5(NSD1):c.4139_4140dup (p.Val1381fs)
NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)
NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)
NM_025000.4(DCAF17):c.1171dup (p.Glu391fs)
NM_025074.7(FRAS1):c.10540+3A>G
NM_030665.4(RAI1):c.367dup (p.Ala123fs)
NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter)
NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)
NM_054012.4(ASS1):c.175-2A>G
NM_078480.3(PUF60):c.207+1G>A
NM_138376.3(TTC5):c.79C>T (p.Arg27Ter)
NM_138694.4(PKHD1):c.8162dup (p.Thr2722fs)
NM_147191.1(MMP21):c.614G>A (p.Trp205Ter)
NM_175914.5(HNF4A):c.49+1G>T
NM_182925.5(FLT4):c.2922_2941del (p.Gly975fs)
NM_198173.3(GRHL3):c.1115del (p.Leu372fs)
NM_207037.2(TCF12):c.655del (p.Ser219fs)

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