ClinVar Miner

List of variants in gene TMEM67 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_001142301.1(TMEM67):c.-124A>G rs386834188
NM_001142301.1(TMEM67):c.-62+639del rs386834190
NM_001142301.1(TMEM67):c.1076G>A (p.Arg359Gln) rs386834182
NM_001142301.1(TMEM67):c.1079G>T (p.Arg360Leu) rs386834183
NM_001142301.1(TMEM67):c.1093G>C (p.Asp365His) rs386834184
NM_001142301.1(TMEM67):c.10T>A (p.Ser4Thr) rs386834201
NM_001142301.1(TMEM67):c.1110del (p.Glu371fs) rs749435317
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1293_1294AT[1] (p.Thr431_Tyr432insTer) rs386834186
NM_001142301.1(TMEM67):c.1332+1G>A rs386834187
NM_001142301.1(TMEM67):c.1531-6_1531-3inv rs1554556213
NM_001142301.1(TMEM67):c.1759T>C (p.Trp587Arg) rs386834189
NM_001142301.1(TMEM67):c.2058del (p.Asp687fs) rs386834191
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001142301.1(TMEM67):c.2114G>A (p.Gly705Glu) rs386834193
NM_001142301.1(TMEM67):c.2114G>C (p.Gly705Ala)
NM_001142301.1(TMEM67):c.2285A>G (p.Tyr762Cys) rs386834194
NM_001142301.1(TMEM67):c.2299G>T (p.Glu767Ter) rs386834195
NM_001142301.1(TMEM67):c.2314A>T (p.Lys772Ter) rs386834196
NM_001142301.1(TMEM67):c.2318dup (p.Asn773fs) rs386834197
NM_001142301.1(TMEM67):c.2446_2447insTA (p.Lys816fs) rs386834198
NM_001142301.1(TMEM67):c.2654T>C (p.Leu885Pro) rs386834199
NM_001142301.1(TMEM67):c.271C>T (p.Arg91Ter) rs765468645
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001142301.1(TMEM67):c.336del (p.Gly114fs) rs386834203
NM_001142301.1(TMEM67):c.405del (p.Val136fs) rs386834204
NM_001142301.1(TMEM67):c.408+2T>G rs199821258
NM_001142301.1(TMEM67):c.432G>A (p.Trp144Ter) rs386834205
NM_001142301.1(TMEM67):c.491C>T (p.Ser164Phe) rs386834206
NM_001142301.1(TMEM67):c.505G>A (p.Gly169Arg) rs587779736
NM_001142301.1(TMEM67):c.627-2A>G rs386834207
NM_001142301.1(TMEM67):c.645G>T (p.Trp215Cys) rs386834208
NM_001142301.1(TMEM67):c.6_7del (p.Leu3fs) rs386834200
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.822+1del rs386834181

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