List of variants in gene ASS1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_054012.4(ASS1):c.-4C>T	rs138350285	0.00022
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)	rs373514077	0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)	rs183276875	0.00009
NM_054012.4(ASS1):c.805G>A (p.Val269Met)	rs370595480	0.00007
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	rs756859126	0.00003
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)	rs199751308	0.00002
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)	rs771937610	0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)	rs1554725724	0.00001
NM_054012.4(ASS1):c.257G>A (p.Arg86His)	rs575001023	0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	rs121908636	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)	rs121908638
NM_054012.4(ASS1):c.584T>C (p.Leu195Pro)	rs796051936
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)	rs376371866
NM_054012.4(ASS1):c.880C>T (p.His294Tyr)

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