ClinVar Miner

List of variants in gene SH3TC2 studied for Charcot-Marie-Tooth disease, type 4C

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Total variants: 27
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1747_1748delAG (p.Arg583Alafs) rs80338924
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.217_227delGCTGCTCGGAGinsCCAGTAA (p.Ala73Profs) rs80338919
NM_024577.3(SH3TC2):c.2191delG (p.Glu731Lysfs) rs80338928
NM_024577.3(SH3TC2):c.2491_2492delAG (p.Leu832Hisfs) rs80338929
NM_024577.3(SH3TC2):c.2640delC (p.Asn881Ilefs)
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.28delG (p.Glu10Serfs) rs80338918
NM_024577.3(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3341delC (p.Pro1114Leufs) rs80338936
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.3(SH3TC2):c.3675+2dup rs1554120215
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.58G>T (p.Glu20Ter)
NM_024577.3(SH3TC2):c.820_821insT (p.Lys274Ilefs) rs879253859
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921

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