List of variants in gene MYO15A reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)	rs372466080	0.00011
NM_016239.4(MYO15A):c.6863C>T (p.Ser2288Leu)	rs886052676	0.00004
NM_016239.4(MYO15A):c.10581del (p.Thr3528fs)
NM_016239.4(MYO15A):c.4949_4953dup (p.Leu1652fs)	rs1064797218
NM_016239.4(MYO15A):c.6370C>T (p.Arg2124Trp)
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys)	rs2045862543
NM_016239.4(MYO15A):c.8309_8311del (p.Glu2770del)	rs1555546699
NM_016239.4(MYO15A):c.9083+6T>A	rs1555547112

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