ClinVar Miner

List of variants reported as pathogenic for Schnyder corneal dystrophy by OMIM

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu) rs397514669 0.00001
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser) rs118203945
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly) rs118203950
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly) rs118203947
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro) rs118203951
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile) rs118203948
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg) rs118203946
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg) rs118203952
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser) rs118203949
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu) rs118203953

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