ClinVar Miner

List of variants studied for cranial nerve neuropathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (197):
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ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser) rs121912838 0.00002
NM_001822.7(CHN1):c.80C>G (p.Ala27Gly) rs1689781072 0.00001
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
GRCh38/hg38 1p34.3(chr1:39428731-39468326)x1
GRCh38/hg38 6q21(chr6:106539306-106649299)x1
NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu) rs1592198426
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp) rs121912585
NM_001256012.3(MYH10):c.220G>A (p.Asp74Asn)
NM_001256012.3(MYH10):c.5204G>A (p.Arg1735Gln)
NM_001256012.3(MYH10):c.5924G>A (p.Arg1975His)
NM_001256012.3(MYH10):c.938G>T (p.Gly313Val)
NM_001256012.3(MYH10):c.965A>G (p.Asn322Ser)
NM_001308120.2(TOGARAM1):c.3361A>G (p.Thr1121Ala)
NM_001308120.2(TOGARAM1):c.3932G>A (p.Arg1311His)
NM_001822.7(CHN1):c.62A>G (p.Tyr21Cys)
NM_001903.5(CTNNA1):c.2438A>C (p.Asp813Ala)
NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)
NM_003906.5(MCM3AP):c.5116C>T (p.Leu1706Phe)
NM_004522.3(KIF5C):c.1448A>G (p.Glu483Gly)
NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)
NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)
NM_005246.4(FER):c.1883C>T (p.Thr628Ile)
NM_005246.4(FER):c.1887A>C (p.Gln629His)
NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)
NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)
NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)
NM_006082.3(TUBA1B):c.554A>G (p.Tyr185Cys)
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys)
NM_006087.4(TUBB4A):c.800T>C (p.Met267Thr)
NM_006617.2(NES):c.23A>T (p.Glu8Val)
NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)
NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)
NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)
NM_019113.4(FGF21):c.133C>T (p.Arg45Trp)
NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)
NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)
NM_080425.4(GNAS):c.1717G>C (p.Asp573His)
NM_175737.4(KLB):c.1469G>A (p.Arg490Gln)
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_178014.4(TUBB):c.1198G>C (p.Gly400Arg)
NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys) rs1554534086
NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)
NM_181552.4(CUX1):c.691A>G (p.Met231Val)

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