ClinVar Miner

List of variants in gene combination ARG1, MED23 reported by Counsyl

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter) rs104893940 0.00003
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518 0.00002
NM_000045.4(ARG1):c.212G>C (p.Arg71Thr) rs757959356 0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.372dup (p.Ala125fs) rs776939220 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000045.4(ARG1):c.560+5G>A rs763312659 0.00001
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg) rs104893948 0.00001
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg) rs866970619 0.00001
NM_000045.4(ARG1):c.124_126del (p.Glu42del) rs779949397
NM_000045.4(ARG1):c.129del (p.Glu44fs) rs1169538148
NM_000045.4(ARG1):c.130+1G>T rs113767658
NM_000045.4(ARG1):c.131-7_131-2del rs768972828
NM_000045.4(ARG1):c.131-9dup rs1160133142
NM_000045.4(ARG1):c.272dup (p.Arg92fs) rs796051923
NM_000045.4(ARG1):c.422A>T (p.His141Leu) rs1554250849
NM_000045.4(ARG1):c.435_437dup (p.Ser146_Phe147insSer) rs1554250852
NM_000045.4(ARG1):c.466-2A>G rs1554251045
NM_000045.4(ARG1):c.575_577dup (p.Thr192_Leu193insPro) rs1554251136
NM_000045.4(ARG1):c.58-2A>C rs1554250040
NM_000045.4(ARG1):c.640_643dup (p.Thr215fs) rs1554251158
NM_000045.4(ARG1):c.693del (p.Phe231fs) rs1554251191
NM_000045.4(ARG1):c.767_769del (p.Glu256del) rs1554251236
NM_000045.4(ARG1):c.787G>T (p.Glu263Ter) rs747579073
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp) rs1326930389
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000045.4(ARG1):c.874del (p.Thr292fs) rs771395982
NM_000045.4(ARG1):c.913G>A (p.Gly305Arg) rs866970619
NM_000045.4(ARG1):c.945dup (p.Asp316Ter) rs1420954130
NM_000045.4(ARG1):c.959_962del (p.Pro320fs) rs1554251368

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