List of variants in gene combination CCNH, RASA1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 33

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HGVS	dbSNP	gnomAD frequency
NM_002890.3(RASA1):c.1371G>A (p.Lys457=)	rs140707293	0.00208
NM_002890.3(RASA1):c.2528C>A (p.Thr843Asn)	rs184201084	0.00096
NM_002890.3(RASA1):c.1394G>A (p.Arg465His)	rs181630831	0.00071
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys)	rs145752649	0.00043
NM_002890.3(RASA1):c.1332+8T>C	rs376637789	0.00012
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val)	rs113316011	0.00011
NM_002890.3(RASA1):c.2488-20T>G	rs369400038	0.00008
NM_002890.3(RASA1):c.3132T>C (p.Asn1044=)	rs149297860	0.00006
NM_002890.3(RASA1):c.1722A>G (p.Ala574=)	rs200157130	0.00005
NM_002890.3(RASA1):c.2337C>T (p.Ser779=)	rs758662266	0.00004
NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe)	rs757166432	0.00001
NM_002890.3(RASA1):c.2149A>G (p.Ile717Val)	rs972697183	0.00001
NM_002890.3(RASA1):c.2307G>A (p.Leu769=)	rs780065565	0.00001
NM_002890.3(RASA1):c.1103-2A>C	rs1484719321
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter)	rs1561300506
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter)	rs975191415
NM_002890.3(RASA1):c.1454-7del	rs60835976
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter)	rs1554048066
NM_002890.3(RASA1):c.1703G>A (p.Trp568Ter)	rs1580375996
NM_002890.3(RASA1):c.1834A>G (p.Thr612Ala)	rs1314624861
NM_002890.3(RASA1):c.1934+4A>G	rs2112485058
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter)	rs1554049394
NM_002890.3(RASA1):c.2207del (p.His736fs)	rs1761365087
NM_002890.3(RASA1):c.2216_2217del (p.Tyr739fs)	rs2112492062
NM_002890.3(RASA1):c.2604-2A>C	rs1554049882
NM_002890.3(RASA1):c.2691-17del	rs368117332
NM_002890.3(RASA1):c.2691-1G>T
NM_002890.3(RASA1):c.2739G>C (p.Arg913=)	rs375135791
NM_002890.3(RASA1):c.2925+1G>T	rs1762099168
NM_002890.3(RASA1):c.2925+1del	rs1762098966
NM_002890.3(RASA1):c.3018del (p.Asp1007fs)	rs1561333568
NM_002890.3(RASA1):c.829-12del	rs564571974
NM_002890.3(RASA1):c.934_938del (p.Glu312fs)	rs1758098122

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