ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Baylor Genetics and "likely benign" from any submitter

Minimum review status of the submission from Baylor Genetics: Collection method of the submission from Baylor Genetics:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) rs74315329 0.00089
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
Single allele

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