ClinVar Miner

List of variants in gene combination ARG1, MED23 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.306-553T>C rs17657817 0.02559
NM_000045.4(ARG1):c.465+101G>A rs111292763 0.01234
NM_000045.4(ARG1):c.306-240A>G rs9483309 0.01196
NM_000045.4(ARG1):c.306-177A>C rs116284369 0.00806
NM_000045.4(ARG1):c.58-293G>A rs73778020 0.00717
NM_000045.4(ARG1):c.561-31A>C rs41285338 0.00509
NM_000045.4(ARG1):c.665+26_665+27del rs367653966 0.00389
NM_000045.4(ARG1):c.953T>C (p.Leu318Pro) rs73544627 0.00110
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln) rs144994895 0.00085
NM_000045.4(ARG1):c.803-8T>C rs374805901 0.00038
NM_000045.4(ARG1):c.912C>T (p.Phe304=) rs373480378 0.00014
NM_000045.4(ARG1):c.333T>C (p.His111=) rs200458963 0.00006
NM_000045.4(ARG1):c.621A>C (p.Gly207=) rs1028447199 0.00003
NM_000045.4(ARG1):c.702C>T (p.Asp234=) rs148939143 0.00003
NM_000045.4(ARG1):c.306-612C>T rs1037482297 0.00001
NM_000045.4(ARG1):c.543C>T (p.Asp181=) rs745787043 0.00001
GRCh38/hg38 6q23.2(chr6:131477455-131596004)x3
NM_000045.4(ARG1):c.131-11T>C rs1057521893
NM_000045.4(ARG1):c.561-9_561-8del rs756783454
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004

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