List of variants in gene ASS1 reported as likely pathogenic by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)	rs121908646	0.00007
NM_054012.4(ASS1):c.787G>A (p.Val263Met)	rs192838388	0.00005
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)	rs765338121	0.00004
NM_054012.4(ASS1):c.892del (p.Glu298fs)	rs770362721	0.00004
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)	rs756859126	0.00003
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)	rs777828000	0.00003
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)	rs121908639	0.00003
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)	rs371265106	0.00002
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)	rs786204537	0.00001
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)	rs121908644	0.00001
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)	rs770944877	0.00001
NM_054012.4(ASS1):c.773+49C>T	rs763389916	0.00001
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)	rs121908645	0.00001
NM_054012.4(ASS1):c.838+1G>T	rs750214431	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_000050.4(ASS1):c.366delG	rs1057516544
NM_054012.4(ASS1):c.1127+1G>A	rs1057517402
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)	rs786204460
NM_054012.4(ASS1):c.1139del (p.Gln380fs)	rs1213378896
NM_054012.4(ASS1):c.173dup (p.Val59fs)	rs1554982243
NM_054012.4(ASS1):c.175-1G>A	rs1554982809
NM_054012.4(ASS1):c.1A>G (p.Met1Val)	rs750780742
NM_054012.4(ASS1):c.226del (p.Ala76fs)	rs1057516648
NM_054012.4(ASS1):c.291C>A (p.Cys97Ter)	rs1554982847
NM_054012.4(ASS1):c.3G>A (p.Met1Ile)	rs1057516960
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)	rs1057516339
NM_054012.4(ASS1):c.412dup (p.Gln138fs)	rs1554983717
NM_054012.4(ASS1):c.420+1G>A	rs1554983719
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)	rs786204648
NM_054012.4(ASS1):c.496-2A>G	rs398123130
NM_054012.4(ASS1):c.559_566+13del	rs1554722453
NM_054012.4(ASS1):c.567-1G>T	rs1057517259
NM_054012.4(ASS1):c.688+1_688+5del	rs1554723160
NM_054012.4(ASS1):c.773+1G>A	rs982830431
NM_054012.4(ASS1):c.794G>A (p.Arg265His)	rs398123131
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)	rs762387914
NM_054012.4(ASS1):c.823G>T (p.Gly275Ter)	rs1554723625
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)	rs1301613270
NM_054012.4(ASS1):c.951del (p.Phe317fs)	rs775791516
NM_054012.4(ASS1):c.970+1G>A	rs1396766124
NM_054012.4(ASS1):c.971-1G>A	rs1554725033
NM_054012.4(ASS1):c.978del (p.Trp326fs)	rs1057516338

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