ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas and "likely pathogenic" from any submitter

Minimum review status of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas: Collection method of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00287
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00035
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00021
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932 0.00002
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00002
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_014712.3(SETD1A):c.2665C>T (p.Arg889Trp) rs2056158149

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