ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Medical Genetics, National & Kapodistrian University of Athens and "uncertain significance" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens: Collection method of the submission from Laboratory of Medical Genetics, National & Kapodistrian University of Athens:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_001042492.3(NF1):c.7000G>C (p.Gly2334Arg) rs1597848100
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser) rs745565332

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