ClinVar Miner

List of variants in gene combination LIAS, LOC112939935 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006859.4(LIAS):c.20A>T (p.Asp7Val) rs368786581 0.00009
NM_006859.4(LIAS):c.10C>T (p.Arg4Cys) rs1299862454 0.00001
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser) rs1250162017 0.00001
NM_006859.4(LIAS):c.19G>A (p.Asp7Asn) rs761633225 0.00001
NM_006859.4(LIAS):c.23C>T (p.Ala8Val) rs1467308371 0.00001
NM_006859.4(LIAS):c.25G>T (p.Ala9Ser) rs999105881 0.00001
NM_006859.4(LIAS):c.29G>A (p.Arg10His) rs1370681479 0.00001
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg) rs1320749254 0.00001
NM_006859.4(LIAS):c.38G>A (p.Gly13Glu) rs1187910864 0.00001
NM_006859.4(LIAS):c.44G>A (p.Arg15Gln) rs184218786 0.00001
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu) rs1401099440
NM_006859.4(LIAS):c.15C>G (p.Cys5Trp) rs1473782911
NM_006859.4(LIAS):c.17G>A (p.Gly6Glu) rs1744293519
NM_006859.4(LIAS):c.1A>C (p.Met1Leu) rs776691180
NM_006859.4(LIAS):c.26C>T (p.Ala9Val)
NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)
NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln) rs1436660040
NM_006859.4(LIAS):c.44G>C (p.Arg15Pro) rs184218786
NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)
NM_006859.4(LIAS):c.5C>G (p.Ser2Cys) rs372288500
NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)

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