ClinVar Miner

Variants with conflicting interpretations "likely benign" and "likely benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
ClinVar version:

Total variants with conflicting interpretations: 58

HGVS dbSNP
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000155.3(GALT):c.945T>C (p.His315=) rs61735982
NM_000180.3(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000277.2(PAH):c.1199+70G>A rs281865457
NM_000277.2(PAH):c.169-42T>A rs281865459
NM_000322.4(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000539.3(RHO):c.891C>T (p.Ser297=) rs142285818
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.4(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000554.4(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_003977.3(AIP):c.135C>T (p.Asp45=) rs181969066
NM_005732.3(RAD50):c.2910C>T (p.Asp970=) rs148269640
NM_005732.3(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006269.1(RP1):c.5008G>A (p.Ala1670Thr) rs446227
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_012193.3(FZD4):c.205C>T (p.His69Tyr) rs80358282
NM_014249.3(NR2E3):c.361G>A (p.Glu121Lys) rs146403122
NM_015272.4(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025136.3(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_031433.3(MFRP):c.492C>T (p.Tyr164=) rs36015759
NM_033028.4(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_170784.2(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_178857.5(RP1L1):c.4273G>C (p.Asp1425His) rs201205913

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