ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Hadassah Hebrew University Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Hadassah Hebrew University Medical Center: Collection method of the submission from Hadassah Hebrew University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter) rs587777772 0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) rs1584403556
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000382.3(ALDH3A2):c.777G>A (p.Trp259Ter) rs1555533754
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000454.5(SOD1):c.357_357+2del rs2123435651
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
NM_001887.4(CRYBB1):c.171del (p.Asn58fs) rs1064793935
NM_004782.4(SNAP29):c.223del (p.Val75fs) rs869312906
NM_005356.5(LCK):c.1129dup (p.Ser377fs) rs1569967422
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs) rs1574443257
NM_016030.6(TRAPPC12):c.145del (p.Glu49fs) rs1553309983
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) rs571640983
NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu) rs1951433087
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329

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