ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
Download table as spreadsheet
HGVS dbSNP
46,Y,inv(X)(p21.1q13.3)
NM_000059.3(BRCA2):c.6841+2T>G rs1593909960
NM_000062.3(SERPING1):c.1475T>C (p.Met492Thr) rs978962357
NM_000062.3(SERPING1):c.51+1del rs1590821401
NM_000109.4(DMD):c.1788+601A>G rs1603636710
NM_000109.4(DMD):c.4047+1del rs1114167439
NM_000138.4(FBN1):c.7774T>G (p.Cys2592Gly) rs1597512636
NM_000166.6(GJB1):c.218A>G (p.His73Arg)
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000256.3(MYBPC3):c.2994+1G>A
NM_000257.4(MYH7):c.1000-1G>A rs113392527
NM_000257.4(MYH7):c.1572C>G (p.Ile524Met)
NM_000257.4(MYH7):c.5168TCA[1] (p.Ile1724del) rs886044910
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_000426.3(LAMA2):c.1288G>T (p.Glu430Ter) rs1583169151
NM_000426.3(LAMA2):c.5460del (p.Val1821fs) rs1562530132
NM_000478.6(ALPL):c.1451T>G (p.Met484Arg) rs1558558939
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) rs1553415164
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000533.5(PLP1):c.25A>T (p.Arg9Ter)
NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.3(RYR1):c.4160+1G>A rs113460156
NM_001009944.3(PKD1):c.10619-1G>A rs1567159074
NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs) rs1596536873
NM_001046.3(SLC12A2):c.2016_2017insTAA (p.Val673Ter)
NM_001130438.3(SPTAN1):c.1347_1348del (p.Arg449fs)
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter) rs1573138313
NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys)
NM_001267550.2(TTN):c.5383A>T (p.Lys1795Ter) rs1574659116
NM_001267550.2(TTN):c.71083G>T (p.Glu23695Ter) rs1575796530
NM_001458.4(FLNC):c.2504dup (p.Pro836fs) rs1554398705
NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.4861A>T (p.Ile1621Phe)
NM_002335.4(LRP5):c.2090A>G (p.Lys697Arg) rs1565083843
NM_003235.5(TG):c.5804del (p.Asn1935fs) rs1587618417
NM_003280.3(TNNC1):c.130G>A (p.Val44Met)
NM_004006.3(DMD):c.10211del (p.Asp3404fs) rs1114167437
NM_004006.3(DMD):c.1509del (p.Glu503fs)
NM_004006.3(DMD):c.650-39498A>G rs1556980528
NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly) rs886044916
NM_004370.6(COL12A1):c.9114dup (p.Gly3039fs) rs1582025807
NM_004373.4(COX6A1):c.103+1G>C rs377504835
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs)
NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter)
NM_005340.7(HINT1):c.209A>G (p.Asp70Gly) rs1561537267
NM_006612.6(KIF1C):c.864+1G>A rs1567721108
NM_007194.4(CHEK2):c.1504del (p.Glu502fs) rs1601702086
NM_012309.5(SHANK2):c.2439+1G>A
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs)
NM_015295.2(SMCHD1):c.3529G>T (p.Asp1177Tyr) rs1568280995
NM_015295.2(SMCHD1):c.3679G>C (p.Gly1227Arg) rs1204021010
NM_015295.2(SMCHD1):c.4966+5G>A rs1598426626
NM_015295.2(SMCHD1):c.790G>A (p.Glu264Lys) rs867104086
NM_015295.3(SMCHD1):c.1286ATC[1] (p.His430del) rs886044914
NM_015295.3(SMCHD1):c.3927+2dup
NM_016030.6(TRAPPC12):c.361G>T (p.Glu121Ter)
NM_016648.4(LARP7):c.1669-1_1671del rs778909076
NM_017534.6(MYH2):c.3768del (p.Thr1257fs)
NM_017534.6(MYH2):c.5510dup (p.Arg1838fs)
NM_021971.4(GMPPB):c.358A>G (p.Met120Val) rs1559697515
NM_022041.4(GAN):c.141C>G (p.Ile47Met)
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_170707.4(LMNA):c.1158-9_1173del
NM_170707.4(LMNA):c.555_556del (p.Asp185fs) rs1572358674
NM_207037.2(TCF12):c.1467+1G>C rs1566992093
NM_213599.3(ANO5):c.364-2A>G rs776474397
NM_213599.3(ANO5):c.758A>C (p.His253Pro) rs886044915

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.