ClinVar Miner

List of variants reported as benign for hereditary sensory and autonomic neuropathy by Mendelics

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=) rs15775 0.44258
NM_001007792.1(NTRK1):c.122+2042G>A rs56252149 0.17587
NM_001031710.3(KLHL7):c.121-5814A>G rs17147682 0.02041
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001031710.3(KLHL7):c.936+3731_936+3735del rs141774430
NM_001365536.1(SCN9A):c.1975-3dup rs35888674

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