ClinVar Miner

List of variants in gene combination ARG1, MED23 reported as likely pathogenic by Myriad Genetics, Inc.

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.140_141del (p.Val47fs) rs2482351208
NM_000045.4(ARG1):c.143_146del (p.Lys48fs) rs2482351242
NM_000045.4(ARG1):c.145_146insC (p.Asp49fs) rs2482351284
NM_000045.4(ARG1):c.148_149insTTATGTAGTGCAAC (p.Tyr50delinsPheMetTer) rs2482351345
NM_000045.4(ARG1):c.182_184delinsG (p.Asp61fs) rs2482351701
NM_000045.4(ARG1):c.432_448del (p.Val145fs) rs2482369894
NM_000045.4(ARG1):c.459del (p.Gly154fs) rs2482370169
NM_000045.4(ARG1):c.637G>T (p.Glu213Ter) rs2482384178
NM_000045.4(ARG1):c.661G>T (p.Gly221Ter) rs2482384542

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