ClinVar Miner

List of variants in gene SASS6 studied for Inborn genetic diseases

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_194292.3(SASS6):c.1057-6_1057-2del
NM_194292.3(SASS6):c.1186dup (p.Thr396fs) rs1193888919
NM_194292.3(SASS6):c.1283A>G (p.Glu428Gly)
NM_194292.3(SASS6):c.1486C>A (p.Pro496Thr)
NM_194292.3(SASS6):c.1504A>T (p.Ser502Cys)
NM_194292.3(SASS6):c.1543G>A (p.Val515Met)
NM_194292.3(SASS6):c.1667G>A (p.Gly556Glu)
NM_194292.3(SASS6):c.1783G>A (p.Val595Ile)
NM_194292.3(SASS6):c.1834C>T (p.Arg612Cys)
NM_194292.3(SASS6):c.1874A>C (p.Gln625Pro)
NM_194292.3(SASS6):c.20A>G (p.His7Arg)
NM_194292.3(SASS6):c.350A>G (p.Asp117Gly)
NM_194292.3(SASS6):c.41T>C (p.Val14Ala) rs1553218779
NM_194292.3(SASS6):c.512T>C (p.Leu171Pro)
NM_194292.3(SASS6):c.560A>G (p.Glu187Gly)
NM_194292.3(SASS6):c.587G>A (p.Arg196Gln)
NM_194292.3(SASS6):c.728A>G (p.His243Arg)
NM_194292.3(SASS6):c.778G>A (p.Ala260Thr)
NM_194292.3(SASS6):c.838G>A (p.Ala280Thr)
NM_194292.3(SASS6):c.862-5T>C
NM_194292.3(SASS6):c.872G>A (p.Arg291Gln)
NM_194292.3(SASS6):c.921T>G (p.Asp307Glu)

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