ClinVar Miner

List of variants in gene DCHS1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_003737.4(DCHS1):c.7448C>T (p.Thr2483Ile) rs146434035 0.00089
NM_003737.4(DCHS1):c.2000C>G (p.Ser667Cys) rs146086570 0.00022
NM_003737.4(DCHS1):c.6097G>A (p.Asp2033Asn) rs145562528 0.00014
NM_003737.4(DCHS1):c.6509G>A (p.Arg2170His) rs147106756 0.00007
NM_003737.4(DCHS1):c.1357C>T (p.Arg453Trp) rs191332618 0.00003
NM_003737.4(DCHS1):c.3662G>A (p.Gly1221Asp) rs755702148 0.00001
NM_003737.4(DCHS1):c.4882C>T (p.Pro1628Ser) rs1855870859 0.00001
NM_003737.4(DCHS1):c.5911C>T (p.Arg1971Cys) rs755601379 0.00001
NM_003737.4(DCHS1):c.643C>G (p.Arg215Gly) rs747608620 0.00001
NM_003737.4(DCHS1):c.1642G>A (p.Val548Met) rs1564868546
NM_003737.4(DCHS1):c.1670C>G (p.Pro557Arg)
NM_003737.4(DCHS1):c.2095C>A (p.Pro699Thr)
NM_003737.4(DCHS1):c.2595G>A (p.Val865=) rs541336434
NM_003737.4(DCHS1):c.2630T>A (p.Val877Glu)
NM_003737.4(DCHS1):c.2951T>C (p.Leu984Pro)
NM_003737.4(DCHS1):c.3998T>A (p.Val1333Glu)
NM_003737.4(DCHS1):c.598G>C (p.Asp200His)
NM_003737.4(DCHS1):c.7109A>G (p.Asn2370Ser)
NM_003737.4(DCHS1):c.7678C>A (p.Leu2560Ile)
NM_003737.4(DCHS1):c.7736A>T (p.Gln2579Leu) rs1554903356
NM_003737.4(DCHS1):c.9701C>T (p.Ser3234Phe) rs942214212

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