ClinVar Miner

List of variants studied for RASopathy by Mendelics

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2251G>C (p.Gly751Arg)
NM_000267.3(NF1):c.2545_2546dup (p.Val850Glufs)
NM_000267.3(NF1):c.2897C>G (p.Ala966Gly)
NM_000267.3(NF1):c.3625G>C (p.Val1209Leu)
NM_000267.3(NF1):c.3989A>C (p.Glu1330Ala)
NM_000267.3(NF1):c.4111-8_4111-6delGTT rs751729752
NM_000267.3(NF1):c.4199C>T (p.Pro1400Leu) rs753997885
NM_000267.3(NF1):c.4265C>T (p.Ser1422Leu) rs1555618566
NM_000267.3(NF1):c.4592A>G (p.Lys1531Arg)
NM_000267.3(NF1):c.4619G>A (p.Ser1540Asn) rs751414513
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000267.3(NF1):c.484C>A (p.Gln162Lys)
NM_000267.3(NF1):c.5206-2A>T
NM_000267.3(NF1):c.6514G>C (p.Glu2172Gln)
NM_000267.3(NF1):c.6560C>T (p.Ala2187Val)
NM_000267.3(NF1):c.6574A>G (p.Met2192Val) rs864622330
NM_000267.3(NF1):c.7028G>A (p.Arg2343Gln) rs1555535407
NM_000267.3(NF1):c.7450G>A (p.Ala2484Thr)
NM_000267.3(NF1):c.7637C>G (p.Pro2546Arg) rs754511534
NM_000267.3(NF1):c.8261A>G (p.Asn2754Ser) rs772090874
NM_001042492.2(NF1):c.1370A>T (p.His457Leu) rs786202763
NM_001042492.2(NF1):c.1891G>A (p.Gly631Arg) rs757424379
NM_001042492.2(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.2(NF1):c.2248A>G (p.Thr750Ala) rs748064845
NM_001042492.2(NF1):c.2896G>A (p.Ala966Thr) rs876658849
NM_001042492.2(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_001042492.2(NF1):c.4009C>T (p.Arg1337Trp) rs146306756
NM_001042492.2(NF1):c.4943C>T (p.Thr1648Ile) rs376655102
NM_001042492.2(NF1):c.5906A>T (p.Gln1969Leu) rs143502927
NM_001042492.2(NF1):c.6773G>A (p.Arg2258Gln) rs786202030
NM_001042492.2(NF1):c.7006G>A (p.Ala2336Thr) rs587781428
NM_001042492.2(NF1):c.7213A>G (p.Ile2405Val) rs565708398
NM_001042492.2(NF1):c.7484C>T (p.Ser2495Phe) rs757245615
NM_001042492.2(NF1):c.8395G>A (p.Val2799Ile) rs377393842
NM_004333.5(BRAF):c.1783T>C (p.Phe595Leu) rs794729219

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