List of variants in gene combination ARFGEF1, CSPP1 reported as uncertain significance for Inborn genetic diseases

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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: 27

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HGVS	dbSNP	gnomAD frequency
NM_001382391.1(CSPP1):c.3156+6C>T	rs375100195	0.00017
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala)	rs371720718	0.00011
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser)	rs371681100	0.00009
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser)	rs201884732	0.00009
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln)	rs763390190	0.00009
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser)	rs181079660	0.00009
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu)	rs368550470	0.00009
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)	rs200546493	0.00007
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)	rs768603321	0.00004
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His)	rs1241589485	0.00002
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu)	rs755275549	0.00001
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His)	rs766496985	0.00001
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)	rs1429596915	0.00001
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys)	rs758825560	0.00001
NM_001382391.1(CSPP1):c.3425G>C (p.Arg1142Pro)	rs768899319	0.00001
NM_001382391.1(CSPP1):c.3464A>G (p.Asn1155Ser)	rs1228985350	0.00001
NM_001382391.1(CSPP1):c.2996T>G (p.Phe999Cys)
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys)	rs374717800
NM_001382391.1(CSPP1):c.3172A>G (p.Ser1058Gly)	rs1832607595
NM_001382391.1(CSPP1):c.3221G>A (p.Gly1074Glu)
NM_001382391.1(CSPP1):c.3302G>A (p.Arg1101Lys)
NM_001382391.1(CSPP1):c.3306G>T (p.Arg1102Ser)	rs2490891307
NM_001382391.1(CSPP1):c.3425G>A (p.Arg1142Gln)	rs768899319
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser)	rs569956227
NM_001382391.1(CSPP1):c.3461T>C (p.Ile1154Thr)	rs2491009726
NM_001382391.1(CSPP1):c.3530C>T (p.Ser1177Leu)	rs1263195871
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg)	rs1026132903

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