ClinVar Miner

List of variants reported by Taipei Veterans General Hospital, Neurological Institute

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) rs201305795 0.00001
NM_001378969.1(KCND3):c.1013T>A (p.Val338Glu) rs1571939827
NM_001378969.1(KCND3):c.1123C>T (p.Pro375Ser) rs1571636508
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met) rs1571636501
NM_001378969.1(KCND3):c.950G>A (p.Cys317Tyr) rs1571939905
NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) rs1554948318
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) rs1554950655
NM_002775.5(HTRA1):c.543del (p.Ala182fs) rs1273355332
NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) rs1554952277
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) rs1554952291
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) rs1267457680

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