List of variants reported as pathogenic by Reproductive Health Research and Development, BGI Genomics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	rs268	0.01327
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	rs144080386	0.00620
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)	rs141784184	0.00584
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)	rs6445	0.00530
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_016233.2(PADI3):c.335T>A (p.Leu112His)	rs142129409	0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000250.2(MPO):c.2031-2A>C	rs35897051	0.00472
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)	rs33930165	0.00414
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)	rs41276738	0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	rs104894313	0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_000303.3(PMM2):c.422G>A (p.Arg141His)	rs28936415	0.00338
NM_000065.5(C6):c.1879del (p.Asp627fs)	rs61469168	0.00328
NM_016038.4(SBDS):c.258+2T>C	rs113993993	0.00323
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00282
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	rs79389353	0.00238
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)	rs104893836	0.00234
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)	rs57443665	0.00202
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00200
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	rs61751374	0.00178
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	rs121912691	0.00175
NM_001101677.2(SOHLH1):c.346-1G>A	rs140132974	0.00173
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)	rs114925667	0.00169
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)	rs10250779	0.00166
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)	rs35152987	0.00158
NR_003051.3(RMRP):n.71A>G	rs199476103	0.00156
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)	rs28940579	0.00147
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	rs74315294	0.00134
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	rs104893837	0.00132
NM_002470.4(MYH3):c.-9+1G>A	rs557849165	0.00117
NM_031307.4(PUS3):c.-47+3170T>C	rs104894232	0.00103
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)	rs76151636	0.00100
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)	rs386833873	0.00089
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)	rs121908140	0.00089
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter)	rs121908936	0.00086
NM_001003722.2(GLE1):c.433-10A>G	rs386833693	0.00082
NM_000128.4(F11):c.403G>T (p.Glu135Ter)	rs121965063	0.00066
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)	rs137852949	0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu)	rs121965064	0.00065
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00064
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)	rs137852695	0.00061
NM_000145.4(FSHR):c.566C>T (p.Ala189Val)	rs121909658	0.00059
NM_020949.3(SLC7A14):c.988G>A (p.Gly330Arg)	rs2276717	0.00058
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)	rs61732144	0.00055
NM_000112.4(SLC26A2):c.-26+2T>C	rs386833492	0.00055
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter)	rs145360423	0.00054
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_003640.5(ELP1):c.2204+6T>C	rs111033171	0.00051
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)	rs80338794	0.00049
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)	rs137854529	0.00049
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	rs72554665	0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)	rs202210819	0.00032
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00029
NM_001737.5(C9):c.346C>T (p.Arg116Ter)	rs121909592	0.00026
NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)	rs74315337	0.00024
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_012275.3(IL36RN):c.115+6T>C	rs148755083	0.00021
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	rs200483989	0.00019
NM_000352.6(ABCC8):c.3989-9G>A	rs151344623	0.00019
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)	rs142859678	0.00019
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter)	rs180671269	0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)	rs9332964	0.00016
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	rs147394623	0.00015
NM_001298.3(CNGA3):c.101+1G>A	rs147118493	0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00012
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser)	rs75326924	0.00011
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	rs79761867	0.00010
NM_000261.2(MYOC):c.144G>T (p.Gln48His)	rs74315339	0.00001
GRCh37/hg19 5q13.2(chr5:70247768-70247821)
NM_000063.6(C2):c.841_849+19del	rs9332736
NM_000111.3(SLC26A3):c.951_953del (p.Val318del)	rs386833491
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	rs80338671
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)	rs6471
NM_001001548.3(CD36):c.332_333del (p.Thr111fs)	rs572295823
NM_001079802.2(FKTN):c.1167_1168dup (p.Phe390fs)	rs1588222870
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001360.3(DHCR7):c.964-1G>C	rs138659167
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)	rs530719719
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_006846.4(SPINK5):c.2468del (p.Lys823fs)	rs565782662
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)	rs397509360

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