ClinVar Miner

List of variants in gene LOC126859653, SKIC2 studied for trichohepatoenteric syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.1200A>G (p.Thr400=) rs2734331 0.03599
NM_006929.5(SKIC2):c.1041C>T (p.Ala347=) rs35664695 0.02347
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
NM_006929.5(SKIC2):c.1173G>A (p.Pro391=) rs61761945 0.00370
NM_006929.5(SKIC2):c.1020T>C (p.Val340=) rs61761944 0.00058
NM_006929.5(SKIC2):c.1120C>T (p.Arg374Ter) rs200818962 0.00011
NM_006929.5(SKIC2):c.1132G>A (p.Gly378Arg) rs776131482 0.00004
NM_006929.5(SKIC2):c.954C>T (p.Ala318=) rs577271106 0.00004
NM_006929.5(SKIC2):c.990C>T (p.Val330=) rs778024754 0.00004
NM_006929.5(SKIC2):c.1243C>T (p.Arg415Trp) rs138507648 0.00003
NM_006929.5(SKIC2):c.1145T>A (p.Leu382Gln) rs764335100 0.00002
NM_006929.5(SKIC2):c.1022T>G (p.Val341Gly) rs1582171003
NM_006929.5(SKIC2):c.1065-2A>G
NM_006929.5(SKIC2):c.1114G>A (p.Asp372Asn)
NM_006929.5(SKIC2):c.1151C>T (p.Thr384Ile) rs886061307
NM_006929.5(SKIC2):c.1177G>A (p.Ala393Thr) rs1772553546
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)

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