ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from St. Jude Molecular Pathology, St. Jude Children's Research Hospital and "benign" from Invitae

Minimum review status of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Molecular Pathology, St. Jude Children's Research Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00016
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000321.3(RB1):c.731T>C (p.Ile244Thr) rs147754935 0.00004
NM_000038.6(APC):c.2090C>T (p.Ala697Val) rs761733547 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000321.3(RB1):c.1859C>T (p.Thr620Met) rs554834063 0.00003
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) rs397514901 0.00003
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000368.5(TSC1):c.1315C>G (p.Leu439Val) rs199800297 0.00001
NM_000548.5(TSC2):c.2257G>A (p.Ala753Thr) rs574205203 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu) rs775408408
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn) rs1840282022
NM_000548.5(TSC2):c.3240A>C (p.Leu1080Phe) rs371514669
NM_000548.5(TSC2):c.3962A>T (p.Glu1321Val) rs587778736
NM_004364.5(CEBPA):c.296GCG[8] (p.Gly103_Gly104dup) rs780345232

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