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: 63

HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902 0.03505
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939 0.00185
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549 0.00160
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu) rs534886444 0.00020
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282 0.00014
NM_004727.3(SLC24A1):c.2326G>C (p.Glu776Gln) rs150992293 0.00012
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000277.3(PAH):c.169-42T>A rs281865459 0.00001
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_018418.4(SPATA7):c.20_23del rs527236050
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660

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