List of variants in gene combination SCN1A, SCN9A reported as uncertain significance for complex neurodevelopmental disorder

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	rs141268327	0.00496
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)	rs200415928	0.00046
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile)	rs200470541	0.00012
NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp)	rs750269576	0.00007
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser)	rs192406412	0.00006
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His)	rs200374987	0.00006
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser)	rs200624920	0.00004
NM_001365536.1(SCN9A):c.1604C>T (p.Ser535Leu)	rs201354321	0.00003
NM_001365536.1(SCN9A):c.4503+8_4503+9insT	rs767624579	0.00003
NM_001365536.1(SCN9A):c.*2744del	rs763459885	0.00002
NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr)	rs200689195	0.00002
NM_001365536.1(SCN9A):c.1114C>T (p.Arg372Cys)	rs1234934110	0.00001
NM_001365536.1(SCN9A):c.3464T>A (p.Phe1155Tyr)	rs750839038	0.00001
NM_001365536.1(SCN9A):c.3497G>A (p.Cys1166Tyr)	rs370455223	0.00001
NM_001365536.1(SCN9A):c.5948G>T (p.Ser1983Ile)	rs770802841	0.00001
NC_000002.11:g.(?_166897721)_(167163604_?)dup
NC_000002.11:g.(?_166929868)_(167056374_?)dup
NM_001365536.1(SCN9A):c.165_167dup	rs886055049
NM_001365536.1(SCN9A):c.*491del	rs886055047
NM_001365536.1(SCN9A):c.1079A>G (p.Gln360Arg)	rs1698156445
NM_001365536.1(SCN9A):c.4368C>G (p.Ile1456Met)	rs1362318488
NM_001365536.1(SCN9A):c.4434GAA[1] (p.Lys1480del)	rs886055050
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=)	rs1558945594
NM_001365536.1(SCN9A):c.5820C>G (p.Asn1940Lys)	rs371454107

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