ClinVar Miner

List of variants in gene SH3TC2 reported as benign for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_024577.3(SH3TC2):c.*11390A>G rs3213854
NM_024577.3(SH3TC2):c.*15823T>C rs4562031
NM_024577.3(SH3TC2):c.*16020A>C rs4543254
NM_024577.3(SH3TC2):c.*16950T>C rs10040798
NM_024577.3(SH3TC2):c.*17703A>G rs4235739
NM_024577.3(SH3TC2):c.*18554G>T rs10040598
NM_024577.3(SH3TC2):c.*19564dupT rs5872105
NM_024577.3(SH3TC2):c.*19919T>C rs2217638
NM_024577.3(SH3TC2):c.*3077C>T rs1045942
NM_024577.3(SH3TC2):c.*3136G>A rs1019927
NM_024577.3(SH3TC2):c.*5490G>A rs1432795
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) rs146666910
NM_024577.3(SH3TC2):c.1473C>T (p.Phe491=) rs144016931
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) rs17109261
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.2868A>G (p.Leu956=) rs115507662
NM_024577.3(SH3TC2):c.2872+9G>A rs76488338
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803
NM_024577.3(SH3TC2):c.3479-8A>G rs147800229
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.385+4_385+8delTGGTA rs148930563
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512

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