ClinVar Miner

List of variants in gene ARHGAP9, MARS1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004990.4(MARS1):c.42G>T (p.Pro14=) rs144002827 0.00041
NM_004990.4(MARS1):c.109+18G>C rs372722438 0.00031
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809 0.00014
NM_004990.4(MARS1):c.46C>G (p.Leu16Val) rs188955897 0.00005
NM_004990.4(MARS1):c.31G>A (p.Gly11Ser) rs750309467 0.00002
NM_004990.4(MARS1):c.66C>T (p.Ala22=) rs200471304 0.00002
NM_004990.4(MARS1):c.2T>A (p.Met1Lys) rs760194380 0.00001
NM_004990.4(MARS1):c.70G>A (p.Gly24Ser) rs1227531274 0.00001
NM_004990.4(MARS1):c.87C>T (p.Leu29=) rs755807464 0.00001
NM_004990.4(MARS1):c.97del (p.Thr32_Val33insTer) rs773474721 0.00001
NM_004990.4(MARS1):c.109+16_109+21del
NM_004990.4(MARS1):c.109+19G>T
NM_004990.4(MARS1):c.109+7GTGCTG[3] rs763091763
NM_004990.4(MARS1):c.109G>A (p.Asp37Asn)
NM_004990.4(MARS1):c.13G>A (p.Val5Met) rs587777227
NM_004990.4(MARS1):c.30G>A (p.Pro10=)
NM_004990.4(MARS1):c.31G>C (p.Gly11Arg)
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser) rs1875583589
NM_004990.4(MARS1):c.5G>C (p.Arg2Thr)
NM_004990.4(MARS1):c.67C>G (p.Arg23Gly) rs2139993470
NM_004990.4(MARS1):c.68G>A (p.Arg23Gln) rs1247809884
NM_004990.4(MARS1):c.71G>C (p.Gly24Ala)
NM_004990.4(MARS1):c.72C>T (p.Gly24=) rs1320124519
NM_004990.4(MARS1):c.73A>G (p.Arg25Gly)
NM_004990.4(MARS1):c.86T>C (p.Leu29Pro)
NM_004990.4(MARS1):c.89T>G (p.Ile30Ser)

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