ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare and "uncertain significance" from any submitter

Minimum review status of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare: Collection method of the submission from Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00038
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) rs752029771 0.00002
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln) rs759055242 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) rs1833698535
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575

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