ClinVar Miner

List of variants reported as benign for Microcephaly 14, primary, autosomal recessive

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_194292.3(SASS6):c.776C>T (p.Ala259Val) rs13375867 0.33090
NM_194292.3(SASS6):c.735A>G (p.Gln245=) rs150364529 0.00856
NM_194292.3(SASS6):c.312-4A>C rs149440197 0.00500
NM_194292.3(SASS6):c.1835G>A (p.Arg612His) rs143522528 0.00356
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) rs150589706 0.00001

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