ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Eurofins NTD LLC (GA) and "risk factor" from OMIM

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906

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