ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Phosphorus, Inc. and "likely benign" from any submitter

Minimum review status of the submission from Phosphorus, Inc.: Collection method of the submission from Phosphorus, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_006440.5(TXNRD2):c.858G>C (p.Arg286Ser) rs201503021 0.00064
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728 0.00058
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_006514.4(SCN10A):c.4849G>T (p.Val1617Phe) rs375940680 0.00015
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_001042492.3(NF1):c.7910G>A (p.Arg2637Gln) rs560262404 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_006939.4(SOS2):c.2161+10A>G rs201629454 0.00001
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713

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