List of variants in gene KCNMA1 reported as uncertain significance by New York Genome Center

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu)	rs373620901	0.00009
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe)	rs766759815	0.00004
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp)	rs200299051	0.00004
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)	rs376264061	0.00004
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly)	rs886047270	0.00003
NM_001161352.2(KCNMA1):c.1332C>T (p.His444=)	rs202124080	0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C	rs558650814	0.00001
NM_001161352.2(KCNMA1):c.1224-326G>C	rs2153793727
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu)	rs147369374
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del)	rs1484259264
NM_001161352.2(KCNMA1):c.378+5538T>G	rs2154571203
NM_001161352.2(KCNMA1):c.379-114292C>G	rs2154549804
NM_001161352.2(KCNMA1):c.379-51304del	rs2154521818

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