List of variants in gene SASH1 reported as pathogenic by OMIM

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys)	rs587781245	0.00006
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala)	rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys)	rs1562489156
NM_015278.5(SASH1):c.1527_1530dup (p.Leu511fs)	rs1562489165
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg)	rs1237876014
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro)	rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn)	rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His)	rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp)	rs1562490566
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr)	rs1562491501

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